Canonical Allele Identifier: CA2668048642

Gene: PLS1

Linked Data

• gnomAD v4: 3-142712068-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142712068C>A , CM000665.2:g.142712068C>A	GRCh38
NC_000003.11:g.142430910C>A , CM000665.1:g.142430910C>A	GRCh37
NC_000003.10:g.143913600C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457734.7:c.*61C>A MANE Select	ENSP00000387890.2:n.*61C>A
ENST00000337777.7:c.*61C>A	ENSP00000336831.3:n.*61C>A
ENST00000457734.6:c.*61C>A	ENSP00000387890.2:n.*61C>A
NM_001145319.1:c.*61C>A	NP_001138791.1:n.*61C>A
NM_001172312.1:c.*61C>A	NP_001165783.1:n.*61C>A
NM_002670.2:c.*61C>A	NP_002661.2:n.*61C>A
XM_006713660.2:c.*61C>A	XP_006713723.1:n.*61C>A
XM_011512900.1:c.*61C>A	XP_011511202.1:n.*61C>A
XM_011512901.1:c.*61C>A	XP_011511203.1:n.*61C>A
XM_011512902.1:c.*61C>A	XP_011511204.1:n.*61C>A
XM_011512903.1:c.*61C>A	XP_011511205.1:n.*61C>A
XM_006713660.3:c.*61C>A	XP_006713723.1:n.*61C>A
XM_011512900.2:c.*61C>A	XP_011511202.1:n.*61C>A
XM_011512903.2:c.*61C>A	XP_011511205.1:n.*61C>A
XM_017006626.1:c.*61C>A	XP_016862115.1:n.*61C>A
XM_017006627.1:c.*61C>A	XP_016862116.1:n.*61C>A
NM_001145319.2:c.*61C>A MANE Select	NP_001138791.1:n.*61C>A
NM_002670.3:c.*61C>A	NP_002661.2:n.*61C>A
NM_001172312.2:c.*61C>A	NP_001165783.1:n.*61C>A