Canonical Allele Identifier: CA161956998

Gene: PEX1

Linked Data

• dbSNP Id: rs113906996
• MyVariant Identifiers: chr7:g.92126048G>A (hg19) ; chr7:g.92496734G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496734G>A , CM000669.2:g.92496734G>A	GRCh38
NC_000007.13:g.92126048G>A , CM000669.1:g.92126048G>A	GRCh37
NC_000007.12:g.91963984G>A	NCBI36
NG_008341.1:g.36798C>T
NG_008341.2:g.36798C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2762C>T MANE Select	ENSP00000248633.4:p.Ala921Val
ENST00000248633.8:c.2762C>T	ENSP00000248633.4:p.Ala921Val
ENST00000428214.5:c.2591C>T	ENSP00000394413.1:p.Ala864Val
ENST00000438045.5:c.1796C>T	ENSP00000410438.1:p.Ala599Val
ENST00000484913.5:n.2801C>T
ENST00000496420.5:n.2654C>T
NM_000466.2:c.2762C>T	NP_000457.1:p.Ala921Val
NM_001282677.1:c.2591C>T	NP_001269606.1:p.Ala864Val
NM_001282678.1:c.2138C>T	NP_001269607.1:p.Ala713Val
XM_005250433.3:c.1013C>T	XP_005250490.1:p.Ala338Val
XR_242246.3:n.2858C>T
XM_017012319.2:c.1013C>T	XP_016867808.1:p.Ala338Val
XR_001744808.2:n.1789C>T
XR_242246.5:n.2809C>T
NM_000466.3:c.2762C>T MANE Select	NP_000457.1:p.Ala921Val
NM_001282677.2:c.2591C>T	NP_001269606.1:p.Ala864Val
NM_001282678.2:c.2138C>T	NP_001269607.1:p.Ala713Val