Canonical Allele Identifier: CA398479857

Gene: PIGL

Linked Data

• gnomAD v4: 17-16313559-G-C
• MyVariant Identifiers: chr17:g.16216873G>C (hg19) ; chr17:g.16313559G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16313559G>C , CM000679.2:g.16313559G>C	GRCh38
NC_000017.10:g.16216873G>C , CM000679.1:g.16216873G>C	GRCh37
NC_000017.9:g.16157598G>C	NCBI36
NG_032651.1:g.101365G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225609.10:c.439G>C MANE Select	ENSP00000225609.5:p.Asp147His
ENST00000225609.9:c.439G>C	ENSP00000225609.5:p.Asp147His
ENST00000395844.8:c.439G>C	ENSP00000379185.3:p.Asp147His
ENST00000477745.5:n.437G>C
ENST00000498772.6:n.456G>C
ENST00000580201.1:n.451G>C
ENST00000581006.5:c.426+13581G>C	ENSP00000462432.1:n.426+13581G>C
ENST00000584797.5:c.439G>C	ENSP00000463540.1:p.Asp147His
ENST00000585034.5:c.*33G>C	ENSP00000464424.1:n.*33G>C
ENST00000596678.2:c.13G>C	ENSP00000470064.2:p.Asp5His
NM_004278.3:c.439G>C	NP_004269.1:p.Asp147His
XM_011524080.1:c.439G>C	XP_011522382.1:p.Asp147His
XR_243571.2:n.457G>C
XR_429826.2:n.457G>C
XM_011524080.2:c.439G>C	XP_011522382.1:p.Asp147His
XM_017025349.1:c.439G>C	XP_016880838.1:p.Asp147His
XM_017025350.1:c.439G>C	XP_016880839.1:p.Asp147His
XM_017025351.1:c.439G>C	XP_016880840.1:p.Asp147His
XM_017025352.1:c.439G>C	XP_016880841.1:p.Asp147His
XM_017025353.1:c.439G>C	XP_016880842.1:p.Asp147His
XM_017025354.1:c.439G>C	XP_016880843.1:p.Asp147His
XM_017025355.1:c.439G>C	XP_016880844.1:p.Asp147His
XM_017025356.1:c.439G>C	XP_016880845.1:p.Asp147His
NM_004278.4:c.439G>C MANE Select	NP_004269.1:p.Asp147His