Canonical Allele Identifier: CA368198645

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146840A>G (hg19) ; chr7:g.92517526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517526A>G , CM000669.2:g.92517526A>G	GRCh38
NC_000007.13:g.92146840A>G , CM000669.1:g.92146840A>G	GRCh37
NC_000007.12:g.91984776A>G	NCBI36
NG_008341.1:g.16006T>C
NG_008341.2:g.16006T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.989T>C MANE Select	ENSP00000248633.4:p.Val330Ala
ENST00000248633.8:c.989T>C	ENSP00000248633.4:p.Val330Ala
ENST00000428214.5:c.989T>C	ENSP00000394413.1:p.Val330Ala
ENST00000438045.5:c.274-3559T>C	ENSP00000410438.1:n.274-3559T>C
ENST00000484913.5:n.1028T>C
NM_000466.2:c.989T>C	NP_000457.1:p.Val330Ala
NM_001282677.1:c.989T>C	NP_001269606.1:p.Val330Ala
NM_001282678.1:c.365T>C	NP_001269607.1:p.Val122Ala
XR_242246.3:n.1085T>C
XM_017012319.2:c.-678T>C	XP_016867808.1:n.-678T>C
XR_001744808.2:n.99T>C
XR_242246.5:n.1036T>C
NM_000466.3:c.989T>C MANE Select	NP_000457.1:p.Val330Ala
NM_001282677.2:c.989T>C	NP_001269606.1:p.Val330Ala
NM_001282678.2:c.365T>C	NP_001269607.1:p.Val122Ala