Canonical Allele Identifier: CA368178018

Gene: PEX1

Linked Data

• dbSNP Id: rs1585231823
• MyVariant Identifiers: chr7:g.92131317T>G (hg19) ; chr7:g.92502003T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502003T>G , CM000669.2:g.92502003T>G	GRCh38
NC_000007.13:g.92131317T>G , CM000669.1:g.92131317T>G	GRCh37
NC_000007.12:g.91969253T>G	NCBI36
NG_008341.1:g.31529A>C
NG_008341.2:g.31529A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2303A>C MANE Select	ENSP00000248633.4:p.Asp768Ala
ENST00000248633.8:c.2303A>C	ENSP00000248633.4:p.Asp768Ala
ENST00000428214.5:c.2132A>C	ENSP00000394413.1:p.Asp711Ala
ENST00000438045.5:c.1337A>C	ENSP00000410438.1:p.Asp446Ala
ENST00000484913.5:n.2342A>C
ENST00000496092.1:n.101A>C
ENST00000496420.5:n.1979A>C
NM_000466.2:c.2303A>C	NP_000457.1:p.Asp768Ala
NM_001282677.1:c.2132A>C	NP_001269606.1:p.Asp711Ala
NM_001282678.1:c.1679A>C	NP_001269607.1:p.Asp560Ala
XM_005250433.3:c.554A>C	XP_005250490.1:p.Asp185Ala
XR_242246.3:n.2399A>C
XM_017012319.2:c.554A>C	XP_016867808.1:p.Asp185Ala
XR_001744808.2:n.1330A>C
XR_242246.5:n.2350A>C
NM_000466.3:c.2303A>C MANE Select	NP_000457.1:p.Asp768Ala
NM_001282677.2:c.2132A>C	NP_001269606.1:p.Asp711Ala
NM_001282678.2:c.1679A>C	NP_001269607.1:p.Asp560Ala