Canonical Allele Identifier: CA368171041

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92126057C>G (hg19) ; chr7:g.92496743C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496743C>G , CM000669.2:g.92496743C>G	GRCh38
NC_000007.13:g.92126057C>G , CM000669.1:g.92126057C>G	GRCh37
NC_000007.12:g.91963993C>G	NCBI36
NG_008341.1:g.36789G>C
NG_008341.2:g.36789G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2753G>C MANE Select	ENSP00000248633.4:p.Ser918Thr
ENST00000248633.8:c.2753G>C	ENSP00000248633.4:p.Ser918Thr
ENST00000428214.5:c.2582G>C	ENSP00000394413.1:p.Ser861Thr
ENST00000438045.5:c.1787G>C	ENSP00000410438.1:p.Ser596Thr
ENST00000484913.5:n.2792G>C
ENST00000496420.5:n.2645G>C
NM_000466.2:c.2753G>C	NP_000457.1:p.Ser918Thr
NM_001282677.1:c.2582G>C	NP_001269606.1:p.Ser861Thr
NM_001282678.1:c.2129G>C	NP_001269607.1:p.Ser710Thr
XM_005250433.3:c.1004G>C	XP_005250490.1:p.Ser335Thr
XR_242246.3:n.2849G>C
XM_017012319.2:c.1004G>C	XP_016867808.1:p.Ser335Thr
XR_001744808.2:n.1780G>C
XR_242246.5:n.2800G>C
NM_000466.3:c.2753G>C MANE Select	NP_000457.1:p.Ser918Thr
NM_001282677.2:c.2582G>C	NP_001269606.1:p.Ser861Thr
NM_001282678.2:c.2129G>C	NP_001269607.1:p.Ser710Thr