Canonical Allele Identifier: CA398479880
Gene: PIGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16313571G>T , CM000679.2:g.16313571G>T GRCh38
NC_000017.10:g.16216885G>T , CM000679.1:g.16216885G>T GRCh37
NC_000017.9:g.16157610G>T NCBI36
NG_032651.1:g.101377G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000225609.10:c.451G>T MANE Select ENSP00000225609.5:p.Val151Leu
ENST00000225609.9:c.451G>T ENSP00000225609.5:p.Val151Leu
ENST00000395844.8:c.451G>T ENSP00000379185.3:p.Val151Leu
ENST00000477745.5:n.449G>T
ENST00000498772.6:n.468G>T
ENST00000580201.1:n.463G>T
ENST00000581006.5:c.426+13593G>T ENSP00000462432.1:n.426+13593G>T
ENST00000584797.5:c.451G>T ENSP00000463540.1:p.Val151Leu
ENST00000585034.5:c.*45G>T ENSP00000464424.1:n.*45G>T
ENST00000596678.2:c.25G>T ENSP00000470064.2:p.Val9Leu
NM_004278.3:c.451G>T NP_004269.1:p.Val151Leu
XM_011524080.1:c.451G>T XP_011522382.1:p.Val151Leu
XR_243571.2:n.469G>T
XR_429826.2:n.469G>T
XM_011524080.2:c.451G>T XP_011522382.1:p.Val151Leu
XM_017025349.1:c.451G>T XP_016880838.1:p.Val151Leu
XM_017025350.1:c.451G>T XP_016880839.1:p.Val151Leu
XM_017025351.1:c.451G>T XP_016880840.1:p.Val151Leu
XM_017025352.1:c.451G>T XP_016880841.1:p.Val151Leu
XM_017025353.1:c.451G>T XP_016880842.1:p.Val151Leu
XM_017025354.1:c.451G>T XP_016880843.1:p.Val151Leu
XM_017025355.1:c.451G>T XP_016880844.1:p.Val151Leu
XM_017025356.1:c.451G>T XP_016880845.1:p.Val151Leu
NM_004278.4:c.451G>T MANE Select NP_004269.1:p.Val151Leu