Canonical Allele Identifier: CA7630530

Gene: CLN6

Linked Data

• ClinVar Variation Id: 664484
• ClinVar RCV Id: RCV000822586 ; RCV001759618
• dbSNP Id: rs747575187
• ExAC: 15:68502057 C / T
• gnomAD v2: 15-68502057-C-T
• gnomAD v3: 15-68209719-C-T
• gnomAD v4: 15-68209719-C-T
• COSMIC: COSM5958134
• MyVariant Identifiers: chr15:g.68502057C>T (hg19) ; chr15:g.68209719C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209719C>T , CM000677.2:g.68209719C>T	GRCh38
NC_000015.9:g.68502057C>T , CM000677.1:g.68502057C>T	GRCh37
NC_000015.8:g.66289111C>T	NCBI36
NG_008764.2:g.52493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.583G>A MANE Select	ENSP00000249806.5:p.Gly195Ser
ENST00000562767.2:c.84-12091G>A	ENSP00000456336.1:n.84-12091G>A
ENST00000563917.2:n.425G>A
ENST00000565471.6:c.124G>A	ENSP00000457384.1:p.Gly42Ser
ENST00000635747.1:c.*486G>A	ENSP00000490627.1:n.*486G>A
ENST00000636212.1:c.*253G>A	ENSP00000489851.1:n.*253G>A
ENST00000636314.1:c.279G>A	ENSP00000490295.1:p.Ala93=
ENST00000636674.1:n.1685G>A
ENST00000636964.1:n.2111G>A
ENST00000637054.1:c.198+8817G>A	ENSP00000490807.1:n.198+8817G>A
ENST00000637223.1:c.*297G>A	ENSP00000490010.1:n.*297G>A
ENST00000637329.1:c.552G>A
ENST00000637450.1:c.*237G>A	ENSP00000490204.1:n.*237G>A
ENST00000637494.1:c.295G>A	ENSP00000490057.1:p.Gly99Ser
ENST00000637667.1:c.484G>A	ENSP00000489843.1:p.Gly162Ser
ENST00000637823.1:c.408G>A
ENST00000637888.1:c.198+8817G>A	ENSP00000490546.1:n.198+8817G>A
ENST00000638076.1:c.*186G>A	ENSP00000490373.1:n.*186G>A
ENST00000638144.1:n.226G>A
ENST00000646164.1:c.38+8817G>A
ENST00000249806.9:c.583G>A	ENSP00000249806.5:p.Gly195Ser
ENST00000538696.5:c.679G>A	ENSP00000445770.1:p.Gly227Ser
ENST00000562767.1:c.84-12091G>A	ENSP00000456336.1:n.84-12091G>A
ENST00000563917.1:n.483G>A
ENST00000564752.1:c.609G>A	ENSP00000457822.1:p.Ala203=
ENST00000565471.5:c.124G>A	ENSP00000457384.1:p.Gly42Ser
ENST00000566347.5:c.394G>A	ENSP00000457783.1:p.Gly132Ser
ENST00000567060.5:c.299G>A	ENSP00000454818.1:p.Arg100Gln
NM_017882.2:c.583G>A	NP_060352.1:p.Gly195Ser
XR_931861.1:n.805G>A
NM_017882.3:c.583G>A MANE Select	NP_060352.1:p.Gly195Ser