Canonical Allele Identifier: CA368198615

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146831C>A (hg19) ; chr7:g.92517517C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517517C>A , CM000669.2:g.92517517C>A	GRCh38
NC_000007.13:g.92146831C>A , CM000669.1:g.92146831C>A	GRCh37
NC_000007.12:g.91984767C>A	NCBI36
NG_008341.1:g.16015G>T
NG_008341.2:g.16015G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.998G>T MANE Select	ENSP00000248633.4:p.Gly333Val
ENST00000248633.8:c.998G>T	ENSP00000248633.4:p.Gly333Val
ENST00000428214.5:c.998G>T	ENSP00000394413.1:p.Gly333Val
ENST00000438045.5:c.274-3550G>T	ENSP00000410438.1:n.274-3550G>T
ENST00000484913.5:n.1037G>T
NM_000466.2:c.998G>T	NP_000457.1:p.Gly333Val
NM_001282677.1:c.998G>T	NP_001269606.1:p.Gly333Val
NM_001282678.1:c.374G>T	NP_001269607.1:p.Gly125Val
XR_242246.3:n.1094G>T
XM_017012319.2:c.-669G>T	XP_016867808.1:n.-669G>T
XR_001744808.2:n.108G>T
XR_242246.5:n.1045G>T
NM_000466.3:c.998G>T MANE Select	NP_000457.1:p.Gly333Val
NM_001282677.2:c.998G>T	NP_001269606.1:p.Gly333Val
NM_001282678.2:c.374G>T	NP_001269607.1:p.Gly125Val