Canonical Allele Identifier: CA4341196

Gene: PEX1

Linked Data

• dbSNP Id: rs761520575
• ExAC: 7:92132363 G / A
• gnomAD v2: 7-92132363-G-A
• gnomAD v4: 7-92503049-G-A
• MyVariant Identifiers: chr7:g.92132363G>A (hg19) ; chr7:g.92503049G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503049G>A , CM000669.2:g.92503049G>A	GRCh38
NC_000007.13:g.92132363G>A , CM000669.1:g.92132363G>A	GRCh37
NC_000007.12:g.91970299G>A	NCBI36
NG_008341.1:g.30483C>T
NG_008341.2:g.30483C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2218C>T MANE Select	ENSP00000248633.4:p.Pro740Ser
ENST00000248633.8:c.2218C>T	ENSP00000248633.4:p.Pro740Ser
ENST00000428214.5:c.2047C>T	ENSP00000394413.1:p.Pro683Ser
ENST00000438045.5:c.1252C>T	ENSP00000410438.1:p.Pro418Ser
ENST00000484913.5:n.2257C>T
ENST00000496092.1:n.16C>T
ENST00000496420.5:n.1894C>T
NM_000466.2:c.2218C>T	NP_000457.1:p.Pro740Ser
NM_001282677.1:c.2047C>T	NP_001269606.1:p.Pro683Ser
NM_001282678.1:c.1594C>T	NP_001269607.1:p.Pro532Ser
XM_005250433.3:c.469C>T	XP_005250490.1:p.Pro157Ser
XR_242246.3:n.2314C>T
XM_017012319.2:c.469C>T	XP_016867808.1:p.Pro157Ser
XR_001744808.2:n.1245C>T
XR_242246.5:n.2265C>T
NM_000466.3:c.2218C>T MANE Select	NP_000457.1:p.Pro740Ser
NM_001282677.2:c.2047C>T	NP_001269606.1:p.Pro683Ser
NM_001282678.2:c.1594C>T	NP_001269607.1:p.Pro532Ser