Canonical Allele Identifier: CA270007748

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs201929905
• gnomAD v4: 15-43601442-C-G
• MyVariant Identifiers: chr15:g.43893640C>G (hg19) ; chr15:g.43601442C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43601442C>G , CM000677.2:g.43601442C>G	GRCh38
NC_000015.9:g.43893640C>G , CM000677.1:g.43893640C>G	GRCh37
NC_000015.8:g.41680932C>G	NCBI36
NG_011636.1:g.22359G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4655G>C (STRC) MANE Select	ENSP00000401513.2:p.Gly1552Ala
ENST00000411560.1:n.142+1909C>G (CKMT1B)
ENST00000428650.5:c.*1688G>C (STRC)	ENSP00000415991.1:n.*1688G>C
ENST00000440125.5:c.*2447G>C (STRC)	ENSP00000394866.1:n.*2447G>C
ENST00000448437.6:n.1775G>C (STRC)
ENST00000450892.6:c.4655G>C (STRC)	ENSP00000401513.2:p.Gly1552Ala
ENST00000460952.1:n.234G>C (STRC)
ENST00000471703.5:n.2609G>C (STRC)
ENST00000485556.5:n.3510G>C (STRC)
ENST00000493750.1:n.451G>C (STRC)
ENST00000541030.5:c.2336G>C (STRC)	ENSP00000440413.1:p.Gly779Ala
NM_153700.2:c.4655G>C (STRC) MANE Select	NP_714544.1:p.Gly1552Ala
XM_011521277.1:c.5144G>C (STRC)	XP_011519579.1:p.Gly1715Ala
XM_011521278.1:c.4760G>C (STRC)	XP_011519580.1:p.Gly1587Ala
XM_011521279.1:c.4760G>C (STRC)	XP_011519581.1:p.Gly1587Ala