Canonical Allele Identifier: CA392167927

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs1195481747
• gnomAD v4: 15-43604386-G-A
• MyVariant Identifiers: chr15:g.43896584G>A (hg19) ; chr15:g.43604386G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43604386G>A , CM000677.2:g.43604386G>A	GRCh38
NC_000015.9:g.43896584G>A , CM000677.1:g.43896584G>A	GRCh37
NC_000015.8:g.41683876G>A	NCBI36
NG_011636.1:g.19415C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4193C>T (STRC) MANE Select	ENSP00000401513.2:p.Thr1398Ile
ENST00000411560.1:n.143-398G>A (CKMT1B)
ENST00000428650.5:c.*1396C>T (STRC)	ENSP00000415991.1:n.*1396C>T
ENST00000440125.5:c.*1985C>T (STRC)	ENSP00000394866.1:n.*1985C>T
ENST00000448437.6:n.1666-2835C>T (STRC)
ENST00000450892.6:c.4193C>T (STRC)	ENSP00000401513.2:p.Thr1398Ile
ENST00000471703.5:n.2147C>T (STRC)
ENST00000485556.5:n.3048C>T (STRC)
ENST00000541030.5:c.1874C>T (STRC)	ENSP00000440413.1:p.Thr625Ile
NM_153700.2:c.4193C>T (STRC) MANE Select	NP_714544.1:p.Thr1398Ile
XM_011521277.1:c.4682C>T (STRC)	XP_011519579.1:p.Thr1561Ile
XM_011521278.1:c.4298C>T (STRC)	XP_011519580.1:p.Thr1433Ile
XM_011521279.1:c.4298C>T (STRC)	XP_011519581.1:p.Thr1433Ile