Canonical Allele Identifier: CA392162161

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs1237574577
• gnomAD v2: 15-43892848-A-C
• gnomAD v3: 15-43600650-A-C
• gnomAD v4: 15-43600650-A-C
• MyVariant Identifiers: chr15:g.43892848A>C (hg19) ; chr15:g.43600650A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43600650A>C , CM000677.2:g.43600650A>C	GRCh38
NC_000015.9:g.43892848A>C , CM000677.1:g.43892848A>C	GRCh37
NC_000015.8:g.41680140A>C	NCBI36
NG_011636.1:g.23151T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000450892.7:c.4877T>G (STRC) MANE Select	ENSP00000401513.2:p.Leu1626Arg
ENST00000411560.1:n.142+1117A>C (CKMT1B)
ENST00000428650.5:c.*1910T>G (STRC)	ENSP00000415991.1:n.*1910T>G
ENST00000440125.5:c.*2669T>G (STRC)	ENSP00000394866.1:n.*2669T>G
ENST00000448437.6:n.1997T>G (STRC)
ENST00000450892.6:c.4877T>G (STRC)	ENSP00000401513.2:p.Leu1626Arg
ENST00000460952.1:n.456T>G (STRC)
ENST00000471703.5:n.2831T>G (STRC)
ENST00000485556.5:n.3732T>G (STRC)
ENST00000541030.5:c.2558T>G (STRC)	ENSP00000440413.1:p.Leu853Arg
NM_153700.2:c.4877T>G (STRC) MANE Select	NP_714544.1:p.Leu1626Arg
XM_011521277.1:c.5366T>G (STRC)	XP_011519579.1:p.Leu1789Arg
XM_011521278.1:c.4982T>G (STRC)	XP_011519580.1:p.Leu1661Arg
XM_011521279.1:c.4982T>G (STRC)	XP_011519581.1:p.Leu1661Arg