Canonical Allele Identifier: CA456481458

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123661G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494347G>C , CM000669.2:g.92494347G>C	GRCh38
NC_000007.13:g.92123661G>C , CM000669.1:g.92123661G>C	GRCh37
NC_000007.12:g.91961597G>C	NCBI36
NG_008341.1:g.39185C>G
NG_008341.2:g.39185C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2976C>G (PEX1) MANE Select	ENSP00000248633.4:p.Ala992=
ENST00000248633.8:c.2976C>G (PEX1)	ENSP00000248633.4:p.Ala992=
ENST00000428214.5:c.2805C>G (PEX1)	ENSP00000394413.1:p.Ala935=
ENST00000438045.5:c.2010C>G (PEX1)	ENSP00000410438.1:p.Ala670=
ENST00000484913.5:n.3015C>G (PEX1)
ENST00000496420.5:n.2868C>G (PEX1)
NM_000466.2:c.2976C>G (PEX1)	NP_000457.1:p.Ala992=
NM_001282677.1:c.2805C>G (PEX1)	NP_001269606.1:p.Ala935=
NM_001282678.1:c.2352C>G (PEX1)	NP_001269607.1:p.Ala784=
XM_005250433.3:c.1227C>G (PEX1)	XP_005250490.1:p.Ala409=
XR_242246.3:n.3072C>G (PEX1)
XM_017012319.2:c.1227C>G (PEX1)	XP_016867808.1:p.Ala409=
XR_001744808.2:n.2003C>G (PEX1)
XR_001744843.2:n.5316G>C (GATAD1)
XR_242246.5:n.3023C>G (PEX1)
XR_927494.3:n.4167G>C (GATAD1)
XR_927503.3:n.4098G>C (GATAD1)
NM_000466.3:c.2976C>G (PEX1) MANE Select	NP_000457.1:p.Ala992=
NM_001282677.2:c.2805C>G (PEX1)	NP_001269606.1:p.Ala935=
NM_001282678.2:c.2352C>G (PEX1)	NP_001269607.1:p.Ala784=