Canonical Allele Identifier: CA392163488

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs762262248
• gnomAD v4: 15-43601416-C-T
• MyVariant Identifiers: chr15:g.43893614C>T (hg19) ; chr15:g.43601416C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43601416C>T , CM000677.2:g.43601416C>T	GRCh38
NC_000015.9:g.43893614C>T , CM000677.1:g.43893614C>T	GRCh37
NC_000015.8:g.41680906C>T	NCBI36
NG_011636.1:g.22385G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4681G>A (STRC) MANE Select	ENSP00000401513.2:p.Asp1561Asn
ENST00000411560.1:n.142+1883C>T (CKMT1B)
ENST00000428650.5:c.*1714G>A (STRC)	ENSP00000415991.1:n.*1714G>A
ENST00000440125.5:c.*2473G>A (STRC)	ENSP00000394866.1:n.*2473G>A
ENST00000448437.6:n.1801G>A (STRC)
ENST00000450892.6:c.4681G>A (STRC)	ENSP00000401513.2:p.Asp1561Asn
ENST00000460952.1:n.260G>A (STRC)
ENST00000471703.5:n.2635G>A (STRC)
ENST00000485556.5:n.3536G>A (STRC)
ENST00000493750.1:n.477G>A (STRC)
ENST00000541030.5:c.2362G>A (STRC)	ENSP00000440413.1:p.Asp788Asn
NM_153700.2:c.4681G>A (STRC) MANE Select	NP_714544.1:p.Asp1561Asn
XM_011521277.1:c.5170G>A (STRC)	XP_011519579.1:p.Asp1724Asn
XM_011521278.1:c.4786G>A (STRC)	XP_011519580.1:p.Asp1596Asn
XM_011521279.1:c.4786G>A (STRC)	XP_011519581.1:p.Asp1596Asn