Canonical Allele Identifier: CA392168761

Gene: STRC CKMT1B

Linked Data

• gnomAD v4: 15-43604725-T-C
• MyVariant Identifiers: chr15:g.43896923T>C (hg19) ; chr15:g.43604725T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43604725T>C , CM000677.2:g.43604725T>C	GRCh38
NC_000015.9:g.43896923T>C , CM000677.1:g.43896923T>C	GRCh37
NC_000015.8:g.41684215T>C	NCBI36
NG_011636.1:g.19076A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4052A>G (STRC) MANE Select	ENSP00000401513.2:p.Gln1351Arg
ENST00000411560.1:n.143-59T>C (CKMT1B)
ENST00000428650.5:c.*1255A>G (STRC)	ENSP00000415991.1:n.*1255A>G
ENST00000440125.5:c.*1844A>G (STRC)	ENSP00000394866.1:n.*1844A>G
ENST00000448437.6:n.1665+3138A>G (STRC)
ENST00000450892.6:c.4052A>G (STRC)	ENSP00000401513.2:p.Gln1351Arg
ENST00000455136.5:c.1083A>G (STRC)
ENST00000471703.5:n.2006A>G (STRC)
ENST00000485556.5:n.2907A>G (STRC)
ENST00000541030.5:c.1733A>G (STRC)	ENSP00000440413.1:p.Gln578Arg
NM_153700.2:c.4052A>G (STRC) MANE Select	NP_714544.1:p.Gln1351Arg
XM_011521277.1:c.4541A>G (STRC)	XP_011519579.1:p.Gln1514Arg
XM_011521278.1:c.4157A>G (STRC)	XP_011519580.1:p.Gln1386Arg
XM_011521279.1:c.4157A>G (STRC)	XP_011519581.1:p.Gln1386Arg