Canonical Allele Identifier: CA368184552

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92135566T>G (hg19) ; chr7:g.92506252T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506252T>G , CM000669.2:g.92506252T>G	GRCh38
NC_000007.13:g.92135566T>G , CM000669.1:g.92135566T>G	GRCh37
NC_000007.12:g.91973502T>G	NCBI36
NG_008341.1:g.27280A>C
NG_008341.2:g.27280A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1896A>C MANE Select	ENSP00000248633.4:p.Leu632Phe
ENST00000248633.8:c.1896A>C	ENSP00000248633.4:p.Leu632Phe
ENST00000422866.1:c.714A>C
ENST00000428214.5:c.1896A>C	ENSP00000394413.1:p.Leu632Phe
ENST00000438045.5:c.930A>C	ENSP00000410438.1:p.Leu310Phe
ENST00000484913.5:n.1935A>C
ENST00000496420.5:n.1572A>C
NM_000466.2:c.1896A>C	NP_000457.1:p.Leu632Phe
NM_001282677.1:c.1896A>C	NP_001269606.1:p.Leu632Phe
NM_001282678.1:c.1272A>C	NP_001269607.1:p.Leu424Phe
XM_005250433.3:c.147A>C	XP_005250490.1:p.Leu49Phe
XR_242246.3:n.1992A>C
XM_017012319.2:c.147A>C	XP_016867808.1:p.Leu49Phe
XR_001744808.2:n.923A>C
XR_242246.5:n.1943A>C
NM_000466.3:c.1896A>C MANE Select	NP_000457.1:p.Leu632Phe
NM_001282677.2:c.1896A>C	NP_001269606.1:p.Leu632Phe
NM_001282678.2:c.1272A>C	NP_001269607.1:p.Leu424Phe