Canonical Allele Identifier: CA392157619

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs1345993270
• gnomAD v2: 15-43891922-C-T
• gnomAD v4: 15-43599724-C-T
• MyVariant Identifiers: chr15:g.43891922C>T (hg19) ; chr15:g.43599724C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599724C>T , CM000677.2:g.43599724C>T	GRCh38
NC_000015.9:g.43891922C>T , CM000677.1:g.43891922C>T	GRCh37
NC_000015.8:g.41679214C>T	NCBI36
NG_011636.1:g.24077G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.5276G>A (STRC) MANE Select	ENSP00000401513.2:p.Arg1759Gln
ENST00000411560.1:n.142+191C>T (CKMT1B)
ENST00000428650.5:c.*2309G>A (STRC)	ENSP00000415991.1:n.*2309G>A
ENST00000440125.5:c.*3068G>A (STRC)	ENSP00000394866.1:n.*3068G>A
ENST00000448437.6:n.2396G>A (STRC)
ENST00000450892.6:c.5276G>A (STRC)	ENSP00000401513.2:p.Arg1759Gln
ENST00000471703.5:n.3230G>A (STRC)
ENST00000485556.5:n.4131G>A (STRC)
ENST00000541030.5:c.2957G>A (STRC)	ENSP00000440413.1:p.Arg986Gln
NM_153700.2:c.5276G>A (STRC) MANE Select	NP_714544.1:p.Arg1759Gln
XM_011521277.1:c.5765G>A (STRC)	XP_011519579.1:p.Arg1922Gln
XM_011521278.1:c.5381G>A (STRC)	XP_011519580.1:p.Arg1794Gln
XM_011521279.1:c.5381G>A (STRC)	XP_011519581.1:p.Arg1794Gln