Canonical Allele Identifier: CA7527968

Gene: STRC CKMT1B

Linked Data

• ClinVar Variation Id: 504677
• ClinVar RCV Id: RCV000613250
• dbSNP Id: rs201633242
• ExAC: 15:43893702 A / G
• gnomAD v2: 15-43893702-A-G
• gnomAD v3: 15-43601504-A-G
• gnomAD v4: 15-43601504-A-G
• MyVariant Identifiers: chr15:g.43893702A>G (hg19) ; chr15:g.43601504A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43601504A>G , CM000677.2:g.43601504A>G	GRCh38
NC_000015.9:g.43893702A>G , CM000677.1:g.43893702A>G	GRCh37
NC_000015.8:g.41680994A>G	NCBI36
NG_011636.1:g.22297T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000450892.7:c.4593T>C (STRC) MANE Select	ENSP00000401513.2:p.Leu1531=
ENST00000411560.1:n.142+1971A>G (CKMT1B)
ENST00000428650.5:c.*1626T>C (STRC)	ENSP00000415991.1:n.*1626T>C
ENST00000440125.5:c.*2385T>C (STRC)	ENSP00000394866.1:n.*2385T>C
ENST00000448437.6:n.1713T>C (STRC)
ENST00000450892.6:c.4593T>C (STRC)	ENSP00000401513.2:p.Leu1531=
ENST00000460952.1:n.172T>C (STRC)
ENST00000471703.5:n.2547T>C (STRC)
ENST00000485556.5:n.3448T>C (STRC)
ENST00000493750.1:n.389T>C (STRC)
ENST00000541030.5:c.2274T>C (STRC)	ENSP00000440413.1:p.Leu758=
NM_153700.2:c.4593T>C (STRC) MANE Select	NP_714544.1:p.Leu1531=
XM_011521277.1:c.5082T>C (STRC)	XP_011519579.1:p.Leu1694=
XM_011521278.1:c.4698T>C (STRC)	XP_011519580.1:p.Leu1566=
XM_011521279.1:c.4698T>C (STRC)	XP_011519581.1:p.Leu1566=