Canonical Allele Identifier: CA270007731

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs141809944
• gnomAD v3: 15-43601404-T-C
• gnomAD v4: 15-43601404-T-C
• COSMIC: COSM3401751
• MyVariant Identifiers: chr15:g.43893602T>C (hg19) ; chr15:g.43601404T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43601404T>C , CM000677.2:g.43601404T>C	GRCh38
NC_000015.9:g.43893602T>C , CM000677.1:g.43893602T>C	GRCh37
NC_000015.8:g.41680894T>C	NCBI36
NG_011636.1:g.22397A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4693A>G (STRC) MANE Select	ENSP00000401513.2:p.Thr1565Ala
ENST00000411560.1:n.142+1871T>C (CKMT1B)
ENST00000428650.5:c.*1726A>G (STRC)	ENSP00000415991.1:n.*1726A>G
ENST00000440125.5:c.*2485A>G (STRC)	ENSP00000394866.1:n.*2485A>G
ENST00000448437.6:n.1813A>G (STRC)
ENST00000450892.6:c.4693A>G (STRC)	ENSP00000401513.2:p.Thr1565Ala
ENST00000460952.1:n.272A>G (STRC)
ENST00000471703.5:n.2647A>G (STRC)
ENST00000485556.5:n.3548A>G (STRC)
ENST00000493750.1:n.489A>G (STRC)
ENST00000541030.5:c.2374A>G (STRC)	ENSP00000440413.1:p.Thr792Ala
NM_153700.2:c.4693A>G (STRC) MANE Select	NP_714544.1:p.Thr1565Ala
XM_011521277.1:c.5182A>G (STRC)	XP_011519579.1:p.Thr1728Ala
XM_011521278.1:c.4798A>G (STRC)	XP_011519580.1:p.Thr1600Ala
XM_011521279.1:c.4798A>G (STRC)	XP_011519581.1:p.Thr1600Ala