Canonical Allele Identifier: CA368200036

Gene: PEX1

Linked Data

• dbSNP Id: rs1245230849
• gnomAD v2: 7-92147068-G-A
• gnomAD v4: 7-92517754-G-A
• MyVariant Identifiers: chr7:g.92147068G>A (hg19) ; chr7:g.92517754G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517754G>A , CM000669.2:g.92517754G>A	GRCh38
NC_000007.13:g.92147068G>A , CM000669.1:g.92147068G>A	GRCh37
NC_000007.12:g.91985004G>A	NCBI36
NG_008341.1:g.15778C>T
NG_008341.2:g.15778C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.761C>T MANE Select	ENSP00000248633.4:p.Ser254Phe
ENST00000248633.8:c.761C>T	ENSP00000248633.4:p.Ser254Phe
ENST00000428214.5:c.761C>T	ENSP00000394413.1:p.Ser254Phe
ENST00000438045.5:c.274-3787C>T	ENSP00000410438.1:n.274-3787C>T
ENST00000484913.5:n.800C>T
NM_000466.2:c.761C>T	NP_000457.1:p.Ser254Phe
NM_001282677.1:c.761C>T	NP_001269606.1:p.Ser254Phe
NM_001282678.1:c.137C>T	NP_001269607.1:p.Ser46Phe
XR_242246.3:n.857C>T
XR_242246.5:n.808C>T
NM_000466.3:c.761C>T MANE Select	NP_000457.1:p.Ser254Phe
NM_001282677.2:c.761C>T	NP_001269606.1:p.Ser254Phe
NM_001282678.2:c.137C>T	NP_001269607.1:p.Ser46Phe