Canonical Allele Identifier: CA7528314

Gene: STRC

Linked Data

• ClinVar Variation Id: 227966
• ClinVar RCV Id: RCV000221047 ; RCV001288018
• dbSNP Id: rs2597064
• ExAC: 15:43901476 C / T
• gnomAD v2: 15-43901476-C-T
• gnomAD v3: 15-43609278-C-T
• gnomAD v4: 15-43609278-C-T
• MyVariant Identifiers: chr15:g.43901476C>T (hg19) ; chr15:g.43609278C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43609278C>T , CM000677.2:g.43609278C>T	GRCh38
NC_000015.9:g.43901476C>T , CM000677.1:g.43901476C>T	GRCh37
NC_000015.8:g.41688768C>T	NCBI36
NG_011636.1:g.14523G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450892.7:c.3555G>A MANE Select	ENSP00000401513.2:p.Leu1185=
ENST00000428650.5:c.*587G>A	ENSP00000415991.1:n.*587G>A
ENST00000440125.5:c.*1347G>A	ENSP00000394866.1:n.*1347G>A
ENST00000448437.6:n.1426G>A
ENST00000450892.6:c.3555G>A	ENSP00000401513.2:p.Leu1185=
ENST00000455136.5:c.586G>A
ENST00000471703.5:n.1338G>A
ENST00000485556.5:n.2546G>A
ENST00000541030.5:c.1236G>A	ENSP00000440413.1:p.Leu412=
NM_153700.2:c.3555G>A MANE Select	NP_714544.1:p.Leu1185=
XM_011521277.1:c.4044G>A	XP_011519579.1:p.Leu1348=
XM_011521278.1:c.3660G>A	XP_011519580.1:p.Leu1220=
XM_011521279.1:c.3660G>A	XP_011519581.1:p.Leu1220=