Canonical Allele Identifier: CA2668048646

Gene: PLS1

Linked Data

• gnomAD v4: 3-142712081-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142712081G>T , CM000665.2:g.142712081G>T	GRCh38
NC_000003.11:g.142430923G>T , CM000665.1:g.142430923G>T	GRCh37
NC_000003.10:g.143913613G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000457734.7:c.*74G>T MANE Select	ENSP00000387890.2:n.*74G>T
ENST00000337777.7:c.*74G>T	ENSP00000336831.3:n.*74G>T
ENST00000457734.6:c.*74G>T	ENSP00000387890.2:n.*74G>T
NM_001145319.1:c.*74G>T	NP_001138791.1:n.*74G>T
NM_001172312.1:c.*74G>T	NP_001165783.1:n.*74G>T
NM_002670.2:c.*74G>T	NP_002661.2:n.*74G>T
XM_006713660.2:c.*74G>T	XP_006713723.1:n.*74G>T
XM_011512900.1:c.*74G>T	XP_011511202.1:n.*74G>T
XM_011512901.1:c.*74G>T	XP_011511203.1:n.*74G>T
XM_011512902.1:c.*74G>T	XP_011511204.1:n.*74G>T
XM_011512903.1:c.*74G>T	XP_011511205.1:n.*74G>T
XM_006713660.3:c.*74G>T	XP_006713723.1:n.*74G>T
XM_011512900.2:c.*74G>T	XP_011511202.1:n.*74G>T
XM_011512903.2:c.*74G>T	XP_011511205.1:n.*74G>T
XM_017006626.1:c.*74G>T	XP_016862115.1:n.*74G>T
XM_017006627.1:c.*74G>T	XP_016862116.1:n.*74G>T
NM_001145319.2:c.*74G>T MANE Select	NP_001138791.1:n.*74G>T
NM_002670.3:c.*74G>T	NP_002661.2:n.*74G>T
NM_001172312.2:c.*74G>T	NP_001165783.1:n.*74G>T