Canonical Allele Identifier: CA398479511

Gene: PIGL

Linked Data

• MyVariant Identifiers: chr17:g.16203260C>T (hg19) ; chr17:g.16299946C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16299946C>T , CM000679.2:g.16299946C>T	GRCh38
NC_000017.10:g.16203260C>T , CM000679.1:g.16203260C>T	GRCh37
NC_000017.9:g.16143985C>T	NCBI36
NG_032651.1:g.87752C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.394C>T MANE Select	ENSP00000225609.5:p.Leu132Phe
ENST00000225609.9:c.394C>T	ENSP00000225609.5:p.Leu132Phe
ENST00000395844.8:c.394C>T	ENSP00000379185.3:p.Leu132Phe
ENST00000477745.5:n.392C>T
ENST00000498772.6:n.411C>T
ENST00000581006.5:c.394C>T	ENSP00000462432.1:p.Leu132Phe
ENST00000584797.5:c.394C>T	ENSP00000463540.1:p.Leu132Phe
ENST00000585034.5:c.294C>T	ENSP00000464424.1:p.Ser98=
ENST00000607144.4:n.430C>T
NM_004278.3:c.394C>T	NP_004269.1:p.Leu132Phe
XM_011524080.1:c.394C>T	XP_011522382.1:p.Leu132Phe
XR_243571.2:n.412C>T
XR_429826.2:n.412C>T
XM_011524080.2:c.394C>T	XP_011522382.1:p.Leu132Phe
XM_017025349.1:c.394C>T	XP_016880838.1:p.Leu132Phe
XM_017025350.1:c.394C>T	XP_016880839.1:p.Leu132Phe
XM_017025351.1:c.394C>T	XP_016880840.1:p.Leu132Phe
XM_017025352.1:c.394C>T	XP_016880841.1:p.Leu132Phe
XM_017025353.1:c.394C>T	XP_016880842.1:p.Leu132Phe
XM_017025354.1:c.394C>T	XP_016880843.1:p.Leu132Phe
XM_017025355.1:c.394C>T	XP_016880844.1:p.Leu132Phe
XM_017025356.1:c.394C>T	XP_016880845.1:p.Leu132Phe
NM_004278.4:c.394C>T MANE Select	NP_004269.1:p.Leu132Phe