Canonical Allele Identifier: CA368167390

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123642G>C (hg19) ; chr7:g.92494328G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494328G>C , CM000669.2:g.92494328G>C	GRCh38
NC_000007.13:g.92123642G>C , CM000669.1:g.92123642G>C	GRCh37
NC_000007.12:g.91961578G>C	NCBI36
NG_008341.1:g.39204C>G
NG_008341.2:g.39204C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2995C>G (PEX1) MANE Select	ENSP00000248633.4:p.Leu999Val
ENST00000248633.8:c.2995C>G (PEX1)	ENSP00000248633.4:p.Leu999Val
ENST00000428214.5:c.2824C>G (PEX1)	ENSP00000394413.1:p.Leu942Val
ENST00000438045.5:c.2029C>G (PEX1)	ENSP00000410438.1:p.Leu677Val
ENST00000484913.5:n.3034C>G (PEX1)
ENST00000496420.5:n.2887C>G (PEX1)
NM_000466.2:c.2995C>G (PEX1)	NP_000457.1:p.Leu999Val
NM_001282677.1:c.2824C>G (PEX1)	NP_001269606.1:p.Leu942Val
NM_001282678.1:c.2371C>G (PEX1)	NP_001269607.1:p.Leu791Val
XM_005250433.3:c.1246C>G (PEX1)	XP_005250490.1:p.Leu416Val
XR_242246.3:n.3091C>G (PEX1)
XM_017012319.2:c.1246C>G (PEX1)	XP_016867808.1:p.Leu416Val
XR_001744808.2:n.2022C>G (PEX1)
XR_001744843.2:n.5297G>C (GATAD1)
XR_242246.5:n.3042C>G (PEX1)
XR_927494.3:n.4148G>C (GATAD1)
XR_927503.3:n.4079G>C (GATAD1)
NM_000466.3:c.2995C>G (PEX1) MANE Select	NP_000457.1:p.Leu999Val
NM_001282677.2:c.2824C>G (PEX1)	NP_001269606.1:p.Leu942Val
NM_001282678.2:c.2371C>G (PEX1)	NP_001269607.1:p.Leu791Val