Canonical Allele Identifier: CA392157816

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs2085650249
• gnomAD v4: 15-43599758-G-A
• MyVariant Identifiers: chr15:g.43891956G>A (hg19) ; chr15:g.43599758G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599758G>A , CM000677.2:g.43599758G>A	GRCh38
NC_000015.9:g.43891956G>A , CM000677.1:g.43891956G>A	GRCh37
NC_000015.8:g.41679248G>A	NCBI36
NG_011636.1:g.24043C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.5242C>T (STRC) MANE Select	ENSP00000401513.2:p.Arg1748Ter
ENST00000411560.1:n.142+225G>A (CKMT1B)
ENST00000428650.5:c.*2275C>T (STRC)	ENSP00000415991.1:n.*2275C>T
ENST00000440125.5:c.*3034C>T (STRC)	ENSP00000394866.1:n.*3034C>T
ENST00000448437.6:n.2362C>T (STRC)
ENST00000450892.6:c.5242C>T (STRC)	ENSP00000401513.2:p.Arg1748Ter
ENST00000471703.5:n.3196C>T (STRC)
ENST00000485556.5:n.4097C>T (STRC)
ENST00000541030.5:c.2923C>T (STRC)	ENSP00000440413.1:p.Arg975Ter
NM_153700.2:c.5242C>T (STRC) MANE Select	NP_714544.1:p.Arg1748Ter
XM_011521277.1:c.5731C>T (STRC)	XP_011519579.1:p.Arg1911Ter
XM_011521278.1:c.5347C>T (STRC)	XP_011519580.1:p.Arg1783Ter
XM_011521279.1:c.5347C>T (STRC)	XP_011519581.1:p.Arg1783Ter