Canonical Allele Identifier: CA392168754

Gene: STRC CKMT1B

Linked Data

• MyVariant Identifiers: chr15:g.43896922C>G (hg19) ; chr15:g.43604724C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43604724C>G , CM000677.2:g.43604724C>G	GRCh38
NC_000015.9:g.43896922C>G , CM000677.1:g.43896922C>G	GRCh37
NC_000015.8:g.41684214C>G	NCBI36
NG_011636.1:g.19077G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000450892.7:c.4053G>C (STRC) MANE Select	ENSP00000401513.2:p.Gln1351His
ENST00000411560.1:n.143-60C>G (CKMT1B)
ENST00000428650.5:c.*1256G>C (STRC)	ENSP00000415991.1:n.*1256G>C
ENST00000440125.5:c.*1845G>C (STRC)	ENSP00000394866.1:n.*1845G>C
ENST00000448437.6:n.1665+3139G>C (STRC)
ENST00000450892.6:c.4053G>C (STRC)	ENSP00000401513.2:p.Gln1351His
ENST00000455136.5:c.1084G>C (STRC)
ENST00000471703.5:n.2007G>C (STRC)
ENST00000485556.5:n.2908G>C (STRC)
ENST00000541030.5:c.1734G>C (STRC)	ENSP00000440413.1:p.Gln578His
NM_153700.2:c.4053G>C (STRC) MANE Select	NP_714544.1:p.Gln1351His
XM_011521277.1:c.4542G>C (STRC)	XP_011519579.1:p.Gln1514His
XM_011521278.1:c.4158G>C (STRC)	XP_011519580.1:p.Gln1386His
XM_011521279.1:c.4158G>C (STRC)	XP_011519581.1:p.Gln1386His