Canonical Allele Identifier: CA174576

Gene: SMUG1

Linked Data

• ClinVar Variation Id: 161674
• ClinVar RCV Id: RCV000149210
• dbSNP Id: rs193921126
• COSMIC: COSM1179548 ; COSM5521477
• MyVariant Identifiers: chr12:g.54577435T>A (hg19) ; chr12:g.54183651T>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54183651T>A , CM000674.2:g.54183651T>A	GRCh38
NC_000012.11:g.54577435T>A , CM000674.1:g.54577435T>A	GRCh37
NC_000012.10:g.52863702T>A	NCBI36
NG_047137.1:g.10344A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682136.1:c.285+5A>T MANE Select	ENSP00000507590.1:n.285+5A>T
ENST00000243112.9:c.285+5A>T	ENSP00000243112.5:n.285+5A>T
ENST00000337581.7:c.285+5A>T	ENSP00000338606.3:n.285+5A>T
ENST00000401977.6:c.285+5A>T	ENSP00000384828.2:n.285+5A>T
ENST00000503447.1:n.351A>T
ENST00000504338.5:c.285+5A>T	ENSP00000423083.1:n.285+5A>T
ENST00000505128.5:c.290A>T	ENSP00000421894.1:p.Lys97Met
ENST00000505662.1:n.283+114A>T
ENST00000506595.5:c.285+5A>T	ENSP00000421206.1:n.285+5A>T
ENST00000507904.5:c.285+5A>T	ENSP00000423457.1:n.285+5A>T
ENST00000508394.6:c.285+5A>T	ENSP00000424191.1:n.285+5A>T
ENST00000509078.1:n.532+114A>T
ENST00000509864.5:c.278+5A>T
ENST00000511522.5:n.36-1028A>T
ENST00000513838.5:c.285+5A>T	ENSP00000423629.1:n.285+5A>T
ENST00000514196.5:c.285+5A>T	ENSP00000425974.1:n.285+5A>T
ENST00000514685.5:c.285+5A>T	ENSP00000421139.1:n.285+5A>T
ENST00000635234.1:n.115+4864A>T
ENST00000635546.1:c.285+5A>T	ENSP00000489489.1:n.285+5A>T
NM_001243787.1:c.285+5A>T	NP_001230716.1:n.285+5A>T
NM_001243788.1:c.285+5A>T	NP_001230717.1:n.285+5A>T
NM_001243789.1:c.285+5A>T	NP_001230718.1:n.285+5A>T
NM_001243790.1:c.285+5A>T	NP_001230719.1:n.285+5A>T
NM_001243791.1:c.285+5A>T	NP_001230720.1:n.285+5A>T
NM_014311.2:c.285+5A>T	NP_055126.1:n.285+5A>T
NR_045039.1:n.430+5A>T
XM_006719319.2:c.285+5A>T	XP_006719382.1:n.285+5A>T
XM_006719320.2:c.285+5A>T	XP_006719383.1:n.285+5A>T
XM_006719321.2:c.285+5A>T	XP_006719384.1:n.285+5A>T
XM_006719322.2:c.285+5A>T	XP_006719385.1:n.285+5A>T
XM_011538109.1:c.285+5A>T	XP_011536411.1:n.285+5A>T
XM_011538110.1:c.285+5A>T	XP_011536412.1:n.285+5A>T
XM_011538111.1:c.285+5A>T	XP_011536413.1:n.285+5A>T
XM_011538112.1:c.285+5A>T	XP_011536414.1:n.285+5A>T
XM_011538113.1:c.285+5A>T	XP_011536415.1:n.285+5A>T
XM_011538114.1:c.285+5A>T	XP_011536416.1:n.285+5A>T
XM_011538115.1:c.285+5A>T	XP_011536417.1:n.285+5A>T
XM_011538116.1:c.285+5A>T	XP_011536418.1:n.285+5A>T
XM_011538117.1:c.285+5A>T	XP_011536419.1:n.285+5A>T
XM_011538118.1:c.285+5A>T	XP_011536420.1:n.285+5A>T
XM_011538119.1:c.285+5A>T	XP_011536421.1:n.285+5A>T
XM_011538120.1:c.285+5A>T	XP_011536422.1:n.285+5A>T
XM_011538121.1:c.285+5A>T	XP_011536423.1:n.285+5A>T
XM_011538122.1:c.285+5A>T	XP_011536424.1:n.285+5A>T
XM_011538123.1:c.285+5A>T	XP_011536425.1:n.285+5A>T
NM_001351237.1:c.285+5A>T	NP_001338166.1:n.285+5A>T
NM_001351238.1:c.285+5A>T	NP_001338167.1:n.285+5A>T
NM_001351239.1:c.285+5A>T	NP_001338168.1:n.285+5A>T
NM_001351240.1:c.285+5A>T	NP_001338169.1:n.285+5A>T
NM_001351241.1:c.285+5A>T	NP_001338170.1:n.285+5A>T
NM_001351242.1:c.285+5A>T	NP_001338171.1:n.285+5A>T
NM_001351243.1:c.285+5A>T	NP_001338172.1:n.285+5A>T
NM_001351244.1:c.285+5A>T	NP_001338173.1:n.285+5A>T
NM_001351245.1:c.285+5A>T	NP_001338174.1:n.285+5A>T
NM_001351246.1:c.285+5A>T	NP_001338175.1:n.285+5A>T
NM_001351247.1:c.285+5A>T	NP_001338176.1:n.285+5A>T
NM_001351248.1:c.285+5A>T	NP_001338177.1:n.285+5A>T
NM_001351249.1:c.285+5A>T	NP_001338178.1:n.285+5A>T
NM_001351250.1:c.285+5A>T	NP_001338179.1:n.285+5A>T
NM_001351251.1:c.285+5A>T	NP_001338180.1:n.285+5A>T
NM_001351252.1:c.285+5A>T	NP_001338181.1:n.285+5A>T
NM_001351253.1:c.285+5A>T	NP_001338182.1:n.285+5A>T
NM_001351254.1:c.285+5A>T	NP_001338183.1:n.285+5A>T
NM_001351255.1:c.285+5A>T	NP_001338184.1:n.285+5A>T
NM_001351256.1:c.285+5A>T	NP_001338185.1:n.285+5A>T
NM_001351257.1:c.285+5A>T	NP_001338186.1:n.285+5A>T
NM_001351258.1:c.285+5A>T	NP_001338187.1:n.285+5A>T
NM_001351259.1:c.-21-1028A>T	NP_001338188.1:n.-21-1028A>T
NM_001351260.1:c.-22+114A>T	NP_001338189.1:n.-22+114A>T
NM_001351261.1:c.285+5A>T	NP_001338190.1:n.285+5A>T
NM_001351262.1:c.285+5A>T	NP_001338191.1:n.285+5A>T
XM_006719319.3:c.285+5A>T	XP_006719382.1:n.285+5A>T
XM_011538112.2:c.285+5A>T	XP_011536414.1:n.285+5A>T
XM_011538116.2:c.285+5A>T	XP_011536418.1:n.285+5A>T
XM_011538118.2:c.285+5A>T	XP_011536420.1:n.285+5A>T
XM_011538119.2:c.285+5A>T	XP_011536421.1:n.285+5A>T
XM_011538121.2:c.285+5A>T	XP_011536423.1:n.285+5A>T
XM_017019119.2:c.285+5A>T	XP_016874608.1:n.285+5A>T
XM_024448913.1:c.285+5A>T	XP_024304681.1:n.285+5A>T
XR_002957302.1:n.465+5A>T
XR_002957303.1:n.465+5A>T
NM_001243789.2:c.285+5A>T	NP_001230718.1:n.285+5A>T
NM_001243790.2:c.285+5A>T	NP_001230719.1:n.285+5A>T
NM_001243791.2:c.285+5A>T	NP_001230720.1:n.285+5A>T
NM_001351237.2:c.285+5A>T	NP_001338166.1:n.285+5A>T
NM_001351238.2:c.285+5A>T	NP_001338167.1:n.285+5A>T
NM_001351239.2:c.285+5A>T	NP_001338168.1:n.285+5A>T
NM_001351240.2:c.285+5A>T	NP_001338169.1:n.285+5A>T
NM_001351241.2:c.285+5A>T	NP_001338170.1:n.285+5A>T
NM_001351258.2:c.285+5A>T	NP_001338187.1:n.285+5A>T
NM_001351261.2:c.285+5A>T	NP_001338190.1:n.285+5A>T
NM_001243787.2:c.285+5A>T MANE Select	NP_001230716.1:n.285+5A>T
NM_001243788.2:c.285+5A>T	NP_001230717.1:n.285+5A>T
NM_001351242.2:c.285+5A>T	NP_001338171.1:n.285+5A>T
NM_001351243.2:c.285+5A>T	NP_001338172.1:n.285+5A>T
NM_001351244.2:c.285+5A>T	NP_001338173.1:n.285+5A>T
NM_001351245.2:c.285+5A>T	NP_001338174.1:n.285+5A>T
NM_001351246.2:c.285+5A>T	NP_001338175.1:n.285+5A>T
NM_001351247.2:c.285+5A>T	NP_001338176.1:n.285+5A>T
NM_001351248.2:c.285+5A>T	NP_001338177.1:n.285+5A>T
NM_001351249.2:c.285+5A>T	NP_001338178.1:n.285+5A>T
NM_001351250.2:c.285+5A>T	NP_001338179.1:n.285+5A>T
NM_001351251.2:c.285+5A>T	NP_001338180.1:n.285+5A>T
NM_001351252.2:c.285+5A>T	NP_001338181.1:n.285+5A>T
NM_001351253.2:c.285+5A>T	NP_001338182.1:n.285+5A>T
NM_001351254.2:c.285+5A>T	NP_001338183.1:n.285+5A>T
NM_001351255.2:c.285+5A>T	NP_001338184.1:n.285+5A>T
NM_001351256.2:c.285+5A>T	NP_001338185.1:n.285+5A>T
NM_001351257.2:c.285+5A>T	NP_001338186.1:n.285+5A>T
NM_001351259.2:c.-21-1028A>T	NP_001338188.1:n.-21-1028A>T
NM_001351260.2:c.-22+114A>T	NP_001338189.1:n.-22+114A>T
NM_001351262.2:c.285+5A>T	NP_001338191.1:n.285+5A>T
NM_014311.3:c.285+5A>T	NP_055126.1:n.285+5A>T