Canonical Allele Identifier: CA4341152

Gene: PEX1

Linked Data

• dbSNP Id: rs761983391
• ExAC: 7:92131279 C / G
• gnomAD v2: 7-92131279-C-G
• gnomAD v4: 7-92501965-C-G
• MyVariant Identifiers: chr7:g.92131279C>G (hg19) ; chr7:g.92501965C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501965C>G , CM000669.2:g.92501965C>G	GRCh38
NC_000007.13:g.92131279C>G , CM000669.1:g.92131279C>G	GRCh37
NC_000007.12:g.91969215C>G	NCBI36
NG_008341.1:g.31567G>C
NG_008341.2:g.31567G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2341G>C MANE Select	ENSP00000248633.4:p.Ala781Pro
ENST00000248633.8:c.2341G>C	ENSP00000248633.4:p.Ala781Pro
ENST00000428214.5:c.2170G>C	ENSP00000394413.1:p.Ala724Pro
ENST00000438045.5:c.1375G>C	ENSP00000410438.1:p.Ala459Pro
ENST00000484913.5:n.2380G>C
ENST00000496092.1:n.139G>C
ENST00000496420.5:n.2017G>C
NM_000466.2:c.2341G>C	NP_000457.1:p.Ala781Pro
NM_001282677.1:c.2170G>C	NP_001269606.1:p.Ala724Pro
NM_001282678.1:c.1717G>C	NP_001269607.1:p.Ala573Pro
XM_005250433.3:c.592G>C	XP_005250490.1:p.Ala198Pro
XR_242246.3:n.2437G>C
XM_017012319.2:c.592G>C	XP_016867808.1:p.Ala198Pro
XR_001744808.2:n.1368G>C
XR_242246.5:n.2388G>C
NM_000466.3:c.2341G>C MANE Select	NP_000457.1:p.Ala781Pro
NM_001282677.2:c.2170G>C	NP_001269606.1:p.Ala724Pro
NM_001282678.2:c.1717G>C	NP_001269607.1:p.Ala573Pro