Canonical Allele Identifier: CA368198902

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517584-C-G
• MyVariant Identifiers: chr7:g.92146898C>G (hg19) ; chr7:g.92517584C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517584C>G , CM000669.2:g.92517584C>G	GRCh38
NC_000007.13:g.92146898C>G , CM000669.1:g.92146898C>G	GRCh37
NC_000007.12:g.91984834C>G	NCBI36
NG_008341.1:g.15948G>C
NG_008341.2:g.15948G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.931G>C MANE Select	ENSP00000248633.4:p.Ala311Pro
ENST00000248633.8:c.931G>C	ENSP00000248633.4:p.Ala311Pro
ENST00000428214.5:c.931G>C	ENSP00000394413.1:p.Ala311Pro
ENST00000438045.5:c.274-3617G>C	ENSP00000410438.1:n.274-3617G>C
ENST00000484913.5:n.970G>C
NM_000466.2:c.931G>C	NP_000457.1:p.Ala311Pro
NM_001282677.1:c.931G>C	NP_001269606.1:p.Ala311Pro
NM_001282678.1:c.307G>C	NP_001269607.1:p.Ala103Pro
XR_242246.3:n.1027G>C
XM_017012319.2:c.-736G>C	XP_016867808.1:n.-736G>C
XR_001744808.2:n.41G>C
XR_242246.5:n.978G>C
NM_000466.3:c.931G>C MANE Select	NP_000457.1:p.Ala311Pro
NM_001282677.2:c.931G>C	NP_001269606.1:p.Ala311Pro
NM_001282678.2:c.307G>C	NP_001269607.1:p.Ala103Pro