Canonical Allele Identifier: CA368197114

Gene: PEX1

Linked Data

• dbSNP Id: rs1792834029
• gnomAD v4: 7-92517304-A-G
• MyVariant Identifiers: chr7:g.92146618A>G (hg19) ; chr7:g.92517304A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517304A>G , CM000669.2:g.92517304A>G	GRCh38
NC_000007.13:g.92146618A>G , CM000669.1:g.92146618A>G	GRCh37
NC_000007.12:g.91984554A>G	NCBI36
NG_008341.1:g.16228T>C
NG_008341.2:g.16228T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1211T>C MANE Select	ENSP00000248633.4:p.Val404Ala
ENST00000248633.8:c.1211T>C	ENSP00000248633.4:p.Val404Ala
ENST00000422866.1:c.112T>C
ENST00000428214.5:c.1211T>C	ENSP00000394413.1:p.Val404Ala
ENST00000438045.5:c.274-3337T>C	ENSP00000410438.1:n.274-3337T>C
ENST00000484913.5:n.1250T>C
NM_000466.2:c.1211T>C	NP_000457.1:p.Val404Ala
NM_001282677.1:c.1211T>C	NP_001269606.1:p.Val404Ala
NM_001282678.1:c.587T>C	NP_001269607.1:p.Val196Ala
XR_242246.3:n.1307T>C
XM_017012319.2:c.-456T>C	XP_016867808.1:n.-456T>C
XR_001744808.2:n.321T>C
XR_242246.5:n.1258T>C
NM_000466.3:c.1211T>C MANE Select	NP_000457.1:p.Val404Ala
NM_001282677.2:c.1211T>C	NP_001269606.1:p.Val404Ala
NM_001282678.2:c.587T>C	NP_001269607.1:p.Val196Ala