Canonical Allele Identifier: CA368163853

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120675G>C (hg19) ; chr7:g.92491361G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491361G>C , CM000669.2:g.92491361G>C	GRCh38
NC_000007.13:g.92120675G>C , CM000669.1:g.92120675G>C	GRCh37
NC_000007.12:g.91958611G>C	NCBI36
NG_008341.1:g.42171C>G
NG_008341.2:g.42171C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3349C>G (PEX1) MANE Select	ENSP00000248633.4:p.Leu1117Val
ENST00000248633.8:c.3349C>G (PEX1)	ENSP00000248633.4:p.Leu1117Val
ENST00000428214.5:c.3178C>G (PEX1)	ENSP00000394413.1:p.Leu1060Val
ENST00000438045.5:c.2383C>G (PEX1)	ENSP00000410438.1:p.Leu795Val
ENST00000484913.5:n.3388C>G (PEX1)
ENST00000496420.5:n.4404C>G (PEX1)
NM_000466.2:c.3349C>G (PEX1)	NP_000457.1:p.Leu1117Val
NM_001282677.1:c.3178C>G (PEX1)	NP_001269606.1:p.Leu1060Val
NM_001282678.1:c.2725C>G (PEX1)	NP_001269607.1:p.Leu909Val
XM_005250433.3:c.1600C>G (PEX1)	XP_005250490.1:p.Leu534Val
XR_242246.3:n.3445C>G (PEX1)
XM_017012319.2:c.1600C>G (PEX1)	XP_016867808.1:p.Leu534Val
XR_001744808.2:n.2376C>G (PEX1)
XR_001744842.2:n.2399G>C (GATAD1)
XR_001744843.2:n.2330G>C (GATAD1)
XR_002956472.1:n.2456G>C (GATAD1)
XR_002956473.1:n.2487G>C (GATAD1)
XR_002956474.1:n.2404G>C (GATAD1)
XR_242246.5:n.3396C>G (PEX1)
XR_927494.3:n.1181G>C (GATAD1)
XR_927500.3:n.1178G>C (GATAD1)
XR_927503.3:n.1112G>C (GATAD1)
NM_000466.3:c.3349C>G (PEX1) MANE Select	NP_000457.1:p.Leu1117Val
NM_001282677.2:c.3178C>G (PEX1)	NP_001269606.1:p.Leu1060Val
NM_001282678.2:c.2725C>G (PEX1)	NP_001269607.1:p.Leu909Val