Canonical Allele Identifier: CA392160545

Gene: STRC CKMT1B

Linked Data

• gnomAD v4: 15-43600613-G-C
• MyVariant Identifiers: chr15:g.43892811G>C (hg19) ; chr15:g.43600613G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43600613G>C , CM000677.2:g.43600613G>C	GRCh38
NC_000015.9:g.43892811G>C , CM000677.1:g.43892811G>C	GRCh37
NC_000015.8:g.41680103G>C	NCBI36
NG_011636.1:g.23188C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4914C>G (STRC) MANE Select	ENSP00000401513.2:p.His1638Gln
ENST00000411560.1:n.142+1080G>C (CKMT1B)
ENST00000428650.5:c.*1947C>G (STRC)	ENSP00000415991.1:n.*1947C>G
ENST00000440125.5:c.*2706C>G (STRC)	ENSP00000394866.1:n.*2706C>G
ENST00000448437.6:n.2034C>G (STRC)
ENST00000450892.6:c.4914C>G (STRC)	ENSP00000401513.2:p.His1638Gln
ENST00000460952.1:n.493C>G (STRC)
ENST00000471703.5:n.2868C>G (STRC)
ENST00000485556.5:n.3769C>G (STRC)
ENST00000541030.5:c.2595C>G (STRC)	ENSP00000440413.1:p.His865Gln
NM_153700.2:c.4914C>G (STRC) MANE Select	NP_714544.1:p.His1638Gln
XM_011521277.1:c.5403C>G (STRC)	XP_011519579.1:p.His1801Gln
XM_011521278.1:c.5019C>G (STRC)	XP_011519580.1:p.His1673Gln
XM_011521279.1:c.5019C>G (STRC)	XP_011519581.1:p.His1673Gln