Canonical Allele Identifier: CA392162544

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs769443188
• gnomAD v4: 15-43600879-C-T
• MyVariant Identifiers: chr15:g.43893077C>T (hg19) ; chr15:g.43600879C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43600879C>T , CM000677.2:g.43600879C>T	GRCh38
NC_000015.9:g.43893077C>T , CM000677.1:g.43893077C>T	GRCh37
NC_000015.8:g.41680369C>T	NCBI36
NG_011636.1:g.22922G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450892.7:c.4837G>A (STRC) MANE Select	ENSP00000401513.2:p.Glu1613Lys
ENST00000411560.1:n.142+1346C>T (CKMT1B)
ENST00000428650.5:c.*1870G>A (STRC)	ENSP00000415991.1:n.*1870G>A
ENST00000440125.5:c.*2629G>A (STRC)	ENSP00000394866.1:n.*2629G>A
ENST00000448437.6:n.1957G>A (STRC)
ENST00000450892.6:c.4837G>A (STRC)	ENSP00000401513.2:p.Glu1613Lys
ENST00000460952.1:n.416G>A (STRC)
ENST00000471703.5:n.2791G>A (STRC)
ENST00000485556.5:n.3692G>A (STRC)
ENST00000541030.5:c.2518G>A (STRC)	ENSP00000440413.1:p.Glu840Lys
NM_153700.2:c.4837G>A (STRC) MANE Select	NP_714544.1:p.Glu1613Lys
XM_011521277.1:c.5326G>A (STRC)	XP_011519579.1:p.Glu1776Lys
XM_011521278.1:c.4942G>A (STRC)	XP_011519580.1:p.Glu1648Lys
XM_011521279.1:c.4942G>A (STRC)	XP_011519581.1:p.Glu1648Lys