Canonical Allele Identifier: CA624974281

Gene: PIGL

Linked Data

• dbSNP Id: rs764719791
• gnomAD v2: 17-16216941-G-T
• gnomAD v4: 17-16313627-G-T
• MyVariant Identifiers: chr17:g.16216941G>T (hg19) ; chr17:g.16313627G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16313627G>T , CM000679.2:g.16313627G>T	GRCh38
NC_000017.10:g.16216941G>T , CM000679.1:g.16216941G>T	GRCh37
NC_000017.9:g.16157666G>T	NCBI36
NG_032651.1:g.101433G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.494+13G>T MANE Select	ENSP00000225609.5:n.494+13G>T
ENST00000225609.9:c.494+13G>T	ENSP00000225609.5:n.494+13G>T
ENST00000395844.8:c.494+13G>T	ENSP00000379185.3:n.494+13G>T
ENST00000477745.5:n.492+13G>T
ENST00000498772.6:n.511+13G>T
ENST00000580201.1:n.506+13G>T
ENST00000581006.5:c.426+13649G>T	ENSP00000462432.1:n.426+13649G>T
ENST00000584797.5:c.494+13G>T	ENSP00000463540.1:n.494+13G>T
ENST00000585034.5:c.*88+13G>T	ENSP00000464424.1:n.*88+13G>T
ENST00000596678.2:c.68+13G>T	ENSP00000470064.2:n.68+13G>T
NM_004278.3:c.494+13G>T	NP_004269.1:n.494+13G>T
XM_011524080.1:c.494+13G>T	XP_011522382.1:n.494+13G>T
XR_243571.2:n.512+13G>T
XR_429826.2:n.512+13G>T
XM_011524080.2:c.494+13G>T	XP_011522382.1:n.494+13G>T
XM_017025349.1:c.494+13G>T	XP_016880838.1:n.494+13G>T
XM_017025350.1:c.494+13G>T	XP_016880839.1:n.494+13G>T
XM_017025351.1:c.494+13G>T	XP_016880840.1:n.494+13G>T
XM_017025352.1:c.494+13G>T	XP_016880841.1:n.494+13G>T
XM_017025353.1:c.494+13G>T	XP_016880842.1:n.494+13G>T
XM_017025354.1:c.494+13G>T	XP_016880843.1:n.494+13G>T
XM_017025355.1:c.494+13G>T	XP_016880844.1:n.494+13G>T
XM_017025356.1:c.494+13G>T	XP_016880845.1:n.494+13G>T
NM_004278.4:c.494+13G>T MANE Select	NP_004269.1:n.494+13G>T