Canonical Allele Identifier: CA7528149

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs763895934
• ExAC: 15:43896850 A / G
• gnomAD v2: 15-43896850-A-G
• gnomAD v4: 15-43604652-A-G
• MyVariant Identifiers: chr15:g.43896850A>G (hg19) ; chr15:g.43604652A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43604652A>G , CM000677.2:g.43604652A>G	GRCh38
NC_000015.9:g.43896850A>G , CM000677.1:g.43896850A>G	GRCh37
NC_000015.8:g.41684142A>G	NCBI36
NG_011636.1:g.19149T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4125T>C (STRC) MANE Select	ENSP00000401513.2:p.Leu1375=
ENST00000411560.1:n.143-132A>G (CKMT1B)
ENST00000428650.5:c.*1328T>C (STRC)	ENSP00000415991.1:n.*1328T>C
ENST00000440125.5:c.*1917T>C (STRC)	ENSP00000394866.1:n.*1917T>C
ENST00000448437.6:n.1666-3101T>C (STRC)
ENST00000450892.6:c.4125T>C (STRC)	ENSP00000401513.2:p.Leu1375=
ENST00000471703.5:n.2079T>C (STRC)
ENST00000485556.5:n.2980T>C (STRC)
ENST00000541030.5:c.1806T>C (STRC)	ENSP00000440413.1:p.Leu602=
NM_153700.2:c.4125T>C (STRC) MANE Select	NP_714544.1:p.Leu1375=
XM_011521277.1:c.4614T>C (STRC)	XP_011519579.1:p.Leu1538=
XM_011521278.1:c.4230T>C (STRC)	XP_011519580.1:p.Leu1410=
XM_011521279.1:c.4230T>C (STRC)	XP_011519581.1:p.Leu1410=