Canonical Allele Identifier: CA7528166

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs768496019
• ExAC: 15:43896930 G / A
• gnomAD v2: 15-43896930-G-A
• gnomAD v4: 15-43604732-G-A
• MyVariant Identifiers: chr15:g.43896930G>A (hg19) ; chr15:g.43604732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43604732G>A , CM000677.2:g.43604732G>A	GRCh38
NC_000015.9:g.43896930G>A , CM000677.1:g.43896930G>A	GRCh37
NC_000015.8:g.41684222G>A	NCBI36
NG_011636.1:g.19069C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450892.7:c.4045C>T (STRC) MANE Select	ENSP00000401513.2:p.Leu1349Phe
ENST00000411560.1:n.143-52G>A (CKMT1B)
ENST00000428650.5:c.*1248C>T (STRC)	ENSP00000415991.1:n.*1248C>T
ENST00000440125.5:c.*1837C>T (STRC)	ENSP00000394866.1:n.*1837C>T
ENST00000448437.6:n.1665+3131C>T (STRC)
ENST00000450892.6:c.4045C>T (STRC)	ENSP00000401513.2:p.Leu1349Phe
ENST00000455136.5:c.1076C>T (STRC)
ENST00000471703.5:n.1999C>T (STRC)
ENST00000485556.5:n.2900C>T (STRC)
ENST00000541030.5:c.1726C>T (STRC)	ENSP00000440413.1:p.Leu576Phe
NM_153700.2:c.4045C>T (STRC) MANE Select	NP_714544.1:p.Leu1349Phe
XM_011521277.1:c.4534C>T (STRC)	XP_011519579.1:p.Leu1512Phe
XM_011521278.1:c.4150C>T (STRC)	XP_011519580.1:p.Leu1384Phe
XM_011521279.1:c.4150C>T (STRC)	XP_011519581.1:p.Leu1384Phe