Canonical Allele Identifier: CA368202190

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92147490C>G (hg19) ; chr7:g.92518176C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518176C>G , CM000669.2:g.92518176C>G	GRCh38
NC_000007.13:g.92147490C>G , CM000669.1:g.92147490C>G	GRCh37
NC_000007.12:g.91985426C>G	NCBI36
NG_008341.1:g.15356G>C
NG_008341.2:g.15356G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.437G>C MANE Select	ENSP00000248633.4:p.Trp146Ser
ENST00000248633.8:c.437G>C	ENSP00000248633.4:p.Trp146Ser
ENST00000428214.5:c.437G>C	ENSP00000394413.1:p.Trp146Ser
ENST00000438045.5:c.273+3926G>C	ENSP00000410438.1:n.273+3926G>C
ENST00000484913.5:n.476G>C
NM_000466.2:c.437G>C	NP_000457.1:p.Trp146Ser
NM_001282677.1:c.437G>C	NP_001269606.1:p.Trp146Ser
NM_001282678.1:c.-188G>C	NP_001269607.1:n.-188G>C
XR_242246.3:n.533G>C
XR_242246.5:n.484G>C
NM_000466.3:c.437G>C MANE Select	NP_000457.1:p.Trp146Ser
NM_001282677.2:c.437G>C	NP_001269606.1:p.Trp146Ser
NM_001282678.2:c.-188G>C	NP_001269607.1:n.-188G>C