Canonical Allele Identifier: CA7527828

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs369652730
• ExAC: 15:43892761 T / G
• gnomAD v2: 15-43892761-T-G
• gnomAD v3: 15-43600563-T-G
• gnomAD v4: 15-43600563-T-G
• MyVariant Identifiers: chr15:g.43892761T>G (hg19) ; chr15:g.43600563T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43600563T>G , CM000677.2:g.43600563T>G	GRCh38
NC_000015.9:g.43892761T>G , CM000677.1:g.43892761T>G	GRCh37
NC_000015.8:g.41680053T>G	NCBI36
NG_011636.1:g.23238A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4964A>C (STRC) MANE Select	ENSP00000401513.2:p.Glu1655Ala
ENST00000411560.1:n.142+1030T>G (CKMT1B)
ENST00000428650.5:c.*1997A>C (STRC)	ENSP00000415991.1:n.*1997A>C
ENST00000440125.5:c.*2756A>C (STRC)	ENSP00000394866.1:n.*2756A>C
ENST00000448437.6:n.2084A>C (STRC)
ENST00000450892.6:c.4964A>C (STRC)	ENSP00000401513.2:p.Glu1655Ala
ENST00000460952.1:n.543A>C (STRC)
ENST00000471703.5:n.2918A>C (STRC)
ENST00000485556.5:n.3819A>C (STRC)
ENST00000541030.5:c.2645A>C (STRC)	ENSP00000440413.1:p.Glu882Ala
NM_153700.2:c.4964A>C (STRC) MANE Select	NP_714544.1:p.Glu1655Ala
XM_011521277.1:c.5453A>C (STRC)	XP_011519579.1:p.Glu1818Ala
XM_011521278.1:c.5069A>C (STRC)	XP_011519580.1:p.Glu1690Ala
XM_011521279.1:c.5069A>C (STRC)	XP_011519581.1:p.Glu1690Ala