Canonical Allele Identifier: CA392157809

Gene: STRC CKMT1B

Linked Data

• MyVariant Identifiers: chr15:g.43891953T>A (hg19) ; chr15:g.43599755T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599755T>A , CM000677.2:g.43599755T>A	GRCh38
NC_000015.9:g.43891953T>A , CM000677.1:g.43891953T>A	GRCh37
NC_000015.8:g.41679245T>A	NCBI36
NG_011636.1:g.24046A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.5245A>T (STRC) MANE Select	ENSP00000401513.2:p.Ser1749Cys
ENST00000411560.1:n.142+222T>A (CKMT1B)
ENST00000428650.5:c.*2278A>T (STRC)	ENSP00000415991.1:n.*2278A>T
ENST00000440125.5:c.*3037A>T (STRC)	ENSP00000394866.1:n.*3037A>T
ENST00000448437.6:n.2365A>T (STRC)
ENST00000450892.6:c.5245A>T (STRC)	ENSP00000401513.2:p.Ser1749Cys
ENST00000471703.5:n.3199A>T (STRC)
ENST00000485556.5:n.4100A>T (STRC)
ENST00000541030.5:c.2926A>T (STRC)	ENSP00000440413.1:p.Ser976Cys
NM_153700.2:c.5245A>T (STRC) MANE Select	NP_714544.1:p.Ser1749Cys
XM_011521277.1:c.5734A>T (STRC)	XP_011519579.1:p.Ser1912Cys
XM_011521278.1:c.5350A>T (STRC)	XP_011519580.1:p.Ser1784Cys
XM_011521279.1:c.5350A>T (STRC)	XP_011519581.1:p.Ser1784Cys