Canonical Allele Identifier: CA368182258

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92132500T>G (hg19) ; chr7:g.92503186T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503186T>G , CM000669.2:g.92503186T>G	GRCh38
NC_000007.13:g.92132500T>G , CM000669.1:g.92132500T>G	GRCh37
NC_000007.12:g.91970436T>G	NCBI36
NG_008341.1:g.30346A>C
NG_008341.2:g.30346A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2081A>C MANE Select	ENSP00000248633.4:p.Asp694Ala
ENST00000248633.8:c.2081A>C	ENSP00000248633.4:p.Asp694Ala
ENST00000428214.5:c.1910A>C	ENSP00000394413.1:p.Asp637Ala
ENST00000438045.5:c.1115A>C	ENSP00000410438.1:p.Asp372Ala
ENST00000484913.5:n.2120A>C
ENST00000496420.5:n.1757A>C
NM_000466.2:c.2081A>C	NP_000457.1:p.Asp694Ala
NM_001282677.1:c.1910A>C	NP_001269606.1:p.Asp637Ala
NM_001282678.1:c.1457A>C	NP_001269607.1:p.Asp486Ala
XM_005250433.3:c.332A>C	XP_005250490.1:p.Asp111Ala
XR_242246.3:n.2177A>C
XM_017012319.2:c.332A>C	XP_016867808.1:p.Asp111Ala
XR_001744808.2:n.1108A>C
XR_242246.5:n.2128A>C
NM_000466.3:c.2081A>C MANE Select	NP_000457.1:p.Asp694Ala
NM_001282677.2:c.1910A>C	NP_001269606.1:p.Asp637Ala
NM_001282678.2:c.1457A>C	NP_001269607.1:p.Asp486Ala