Canonical Allele Identifier: CA392163752

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs2085667843
• gnomAD v4: 15-43601464-C-T
• MyVariant Identifiers: chr15:g.43893662C>T (hg19) ; chr15:g.43601464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43601464C>T , CM000677.2:g.43601464C>T	GRCh38
NC_000015.9:g.43893662C>T , CM000677.1:g.43893662C>T	GRCh37
NC_000015.8:g.41680954C>T	NCBI36
NG_011636.1:g.22337G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4633G>A (STRC) MANE Select	ENSP00000401513.2:p.Glu1545Lys
ENST00000411560.1:n.142+1931C>T (CKMT1B)
ENST00000428650.5:c.*1666G>A (STRC)	ENSP00000415991.1:n.*1666G>A
ENST00000440125.5:c.*2425G>A (STRC)	ENSP00000394866.1:n.*2425G>A
ENST00000448437.6:n.1753G>A (STRC)
ENST00000450892.6:c.4633G>A (STRC)	ENSP00000401513.2:p.Glu1545Lys
ENST00000460952.1:n.212G>A (STRC)
ENST00000471703.5:n.2587G>A (STRC)
ENST00000485556.5:n.3488G>A (STRC)
ENST00000493750.1:n.429G>A (STRC)
ENST00000541030.5:c.2314G>A (STRC)	ENSP00000440413.1:p.Glu772Lys
NM_153700.2:c.4633G>A (STRC) MANE Select	NP_714544.1:p.Glu1545Lys
XM_011521277.1:c.5122G>A (STRC)	XP_011519579.1:p.Glu1708Lys
XM_011521278.1:c.4738G>A (STRC)	XP_011519580.1:p.Glu1580Lys
XM_011521279.1:c.4738G>A (STRC)	XP_011519581.1:p.Glu1580Lys