Canonical Allele Identifier: CA392162199

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs1260607472
• gnomAD v2: 15-43892852-G-C
• gnomAD v3: 15-43600654-G-C
• gnomAD v4: 15-43600654-G-C
• MyVariant Identifiers: chr15:g.43892852G>C (hg19) ; chr15:g.43600654G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43600654G>C , CM000677.2:g.43600654G>C	GRCh38
NC_000015.9:g.43892852G>C , CM000677.1:g.43892852G>C	GRCh37
NC_000015.8:g.41680144G>C	NCBI36
NG_011636.1:g.23147C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4873C>G (STRC) MANE Select	ENSP00000401513.2:p.His1625Asp
ENST00000411560.1:n.142+1121G>C (CKMT1B)
ENST00000428650.5:c.*1906C>G (STRC)	ENSP00000415991.1:n.*1906C>G
ENST00000440125.5:c.*2665C>G (STRC)	ENSP00000394866.1:n.*2665C>G
ENST00000448437.6:n.1993C>G (STRC)
ENST00000450892.6:c.4873C>G (STRC)	ENSP00000401513.2:p.His1625Asp
ENST00000460952.1:n.452C>G (STRC)
ENST00000471703.5:n.2827C>G (STRC)
ENST00000485556.5:n.3728C>G (STRC)
ENST00000541030.5:c.2554C>G (STRC)	ENSP00000440413.1:p.His852Asp
NM_153700.2:c.4873C>G (STRC) MANE Select	NP_714544.1:p.His1625Asp
XM_011521277.1:c.5362C>G (STRC)	XP_011519579.1:p.His1788Asp
XM_011521278.1:c.4978C>G (STRC)	XP_011519580.1:p.His1660Asp
XM_011521279.1:c.4978C>G (STRC)	XP_011519581.1:p.His1660Asp