Canonical Allele Identifier: CA392163148

Gene: STRC CKMT1B

Linked Data

• gnomAD v4: 15-43600991-G-C
• MyVariant Identifiers: chr15:g.43893189G>C (hg19) ; chr15:g.43600991G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43600991G>C , CM000677.2:g.43600991G>C	GRCh38
NC_000015.9:g.43893189G>C , CM000677.1:g.43893189G>C	GRCh37
NC_000015.8:g.41680481G>C	NCBI36
NG_011636.1:g.22810C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4725C>G (STRC) MANE Select	ENSP00000401513.2:p.Phe1575Leu
ENST00000411560.1:n.142+1458G>C (CKMT1B)
ENST00000428650.5:c.*1758C>G (STRC)	ENSP00000415991.1:n.*1758C>G
ENST00000440125.5:c.*2517C>G (STRC)	ENSP00000394866.1:n.*2517C>G
ENST00000448437.6:n.1845C>G (STRC)
ENST00000450892.6:c.4725C>G (STRC)	ENSP00000401513.2:p.Phe1575Leu
ENST00000460952.1:n.304C>G (STRC)
ENST00000471703.5:n.2679C>G (STRC)
ENST00000485556.5:n.3580C>G (STRC)
ENST00000541030.5:c.2406C>G (STRC)	ENSP00000440413.1:p.Phe802Leu
NM_153700.2:c.4725C>G (STRC) MANE Select	NP_714544.1:p.Phe1575Leu
XM_011521277.1:c.5214C>G (STRC)	XP_011519579.1:p.Phe1738Leu
XM_011521278.1:c.4830C>G (STRC)	XP_011519580.1:p.Phe1610Leu
XM_011521279.1:c.4830C>G (STRC)	XP_011519581.1:p.Phe1610Leu