Canonical Allele Identifier: CA7528025

Gene: STRC CKMT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43603321T>G , CM000677.2:g.43603321T>G	GRCh38
NC_000015.9:g.43895519T>G , CM000677.1:g.43895519T>G	GRCh37
NC_000015.8:g.41682811T>G	NCBI36
NG_011636.1:g.20480A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4466A>C (STRC) MANE Select	ENSP00000401513.2:p.Glu1489Ala
ENST00000411560.1:n.143-1463T>G (CKMT1B)
ENST00000428650.5:c.*1578+675A>C (STRC)	ENSP00000415991.1:n.*1578+675A>C
ENST00000440125.5:c.*2258A>C (STRC)	ENSP00000394866.1:n.*2258A>C
ENST00000448437.6:n.1666-1770A>C (STRC)
ENST00000450892.6:c.4466A>C (STRC)	ENSP00000401513.2:p.Glu1489Ala
ENST00000471703.5:n.2420A>C (STRC)
ENST00000485556.5:n.3321A>C (STRC)
ENST00000493750.1:n.262A>C (STRC)
ENST00000541030.5:c.2147A>C (STRC)	ENSP00000440413.1:p.Glu716Ala
NM_153700.2:c.4466A>C (STRC) MANE Select	NP_714544.1:p.Glu1489Ala
XM_011521277.1:c.4955A>C (STRC)	XP_011519579.1:p.Glu1652Ala
XM_011521278.1:c.4571A>C (STRC)	XP_011519580.1:p.Glu1524Ala
XM_011521279.1:c.4571A>C (STRC)	XP_011519581.1:p.Glu1524Ala