Canonical Allele Identifier: CA392167923

Gene: STRC CKMT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43604384C>G , CM000677.2:g.43604384C>G	GRCh38
NC_000015.9:g.43896582C>G , CM000677.1:g.43896582C>G	GRCh37
NC_000015.8:g.41683874C>G	NCBI36
NG_011636.1:g.19417G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4195G>C (STRC) MANE Select	ENSP00000401513.2:p.Glu1399Gln
ENST00000411560.1:n.143-400C>G (CKMT1B)
ENST00000428650.5:c.*1398G>C (STRC)	ENSP00000415991.1:n.*1398G>C
ENST00000440125.5:c.*1987G>C (STRC)	ENSP00000394866.1:n.*1987G>C
ENST00000448437.6:n.1666-2833G>C (STRC)
ENST00000450892.6:c.4195G>C (STRC)	ENSP00000401513.2:p.Glu1399Gln
ENST00000471703.5:n.2149G>C (STRC)
ENST00000485556.5:n.3050G>C (STRC)
ENST00000541030.5:c.1876G>C (STRC)	ENSP00000440413.1:p.Glu626Gln
NM_153700.2:c.4195G>C (STRC) MANE Select	NP_714544.1:p.Glu1399Gln
XM_011521277.1:c.4684G>C (STRC)	XP_011519579.1:p.Glu1562Gln
XM_011521278.1:c.4300G>C (STRC)	XP_011519580.1:p.Glu1434Gln
XM_011521279.1:c.4300G>C (STRC)	XP_011519581.1:p.Glu1434Gln