Canonical Allele Identifier: CA7528170

Gene: STRC CKMT1B

Linked Data

• ClinVar Variation Id: 448908
• ClinVar RCV Id: RCV000516500 ; RCV000607785
• dbSNP Id: rs144948296
• ExAC: 15:43896948 G / A
• gnomAD v2: 15-43896948-G-A
• gnomAD v3: 15-43604750-G-A
• gnomAD v4: 15-43604750-G-A
• MyVariant Identifiers: chr15:g.43896948G>A (hg19) ; chr15:g.43604750G>A (hg38)
• PubMed: PMID:25157971

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43604750G>A , CM000677.2:g.43604750G>A	GRCh38
NC_000015.9:g.43896948G>A , CM000677.1:g.43896948G>A	GRCh37
NC_000015.8:g.41684240G>A	NCBI36
NG_011636.1:g.19051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4027C>T (STRC) MANE Select	ENSP00000401513.2:p.Gln1343Ter
ENST00000411560.1:n.143-34G>A (CKMT1B)
ENST00000428650.5:c.*1230C>T (STRC)	ENSP00000415991.1:n.*1230C>T
ENST00000440125.5:c.*1819C>T (STRC)	ENSP00000394866.1:n.*1819C>T
ENST00000448437.6:n.1665+3113C>T (STRC)
ENST00000450892.6:c.4027C>T (STRC)	ENSP00000401513.2:p.Gln1343Ter
ENST00000455136.5:c.1058C>T (STRC)
ENST00000471703.5:n.1981C>T (STRC)
ENST00000485556.5:n.2882C>T (STRC)
ENST00000541030.5:c.1708C>T (STRC)	ENSP00000440413.1:p.Gln570Ter
NM_153700.2:c.4027C>T (STRC) MANE Select	NP_714544.1:p.Gln1343Ter
XM_011521277.1:c.4516C>T (STRC)	XP_011519579.1:p.Gln1506Ter
XM_011521278.1:c.4132C>T (STRC)	XP_011519580.1:p.Gln1378Ter
XM_011521279.1:c.4132C>T (STRC)	XP_011519581.1:p.Gln1378Ter