Canonical Allele Identifier: CA490145481

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs1197960267
• gnomAD v2: 15-43893735-G-A
• MyVariant Identifiers: chr15:g.43893735G>A (hg19) ; chr15:g.43601537G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43601537G>A , CM000677.2:g.43601537G>A	GRCh38
NC_000015.9:g.43893735G>A , CM000677.1:g.43893735G>A	GRCh37
NC_000015.8:g.41681027G>A	NCBI36
NG_011636.1:g.22264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4560C>T (STRC) MANE Select	ENSP00000401513.2:p.Pro1520=
ENST00000411560.1:n.142+2004G>A (CKMT1B)
ENST00000428650.5:c.*1593C>T (STRC)	ENSP00000415991.1:n.*1593C>T
ENST00000440125.5:c.*2352C>T (STRC)	ENSP00000394866.1:n.*2352C>T
ENST00000448437.6:n.1680C>T (STRC)
ENST00000450892.6:c.4560C>T (STRC)	ENSP00000401513.2:p.Pro1520=
ENST00000460952.1:n.139C>T (STRC)
ENST00000471703.5:n.2514C>T (STRC)
ENST00000485556.5:n.3415C>T (STRC)
ENST00000493750.1:n.356C>T (STRC)
ENST00000541030.5:c.2241C>T (STRC)	ENSP00000440413.1:p.Pro747=
NM_153700.2:c.4560C>T (STRC) MANE Select	NP_714544.1:p.Pro1520=
XM_011521277.1:c.5049C>T (STRC)	XP_011519579.1:p.Pro1683=
XM_011521278.1:c.4665C>T (STRC)	XP_011519580.1:p.Pro1555=
XM_011521279.1:c.4665C>T (STRC)	XP_011519581.1:p.Pro1555=