Canonical Allele Identifier: CA368164749

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120783G>C (hg19) ; chr7:g.92491469G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491469G>C , CM000669.2:g.92491469G>C	GRCh38
NC_000007.13:g.92120783G>C , CM000669.1:g.92120783G>C	GRCh37
NC_000007.12:g.91958719G>C	NCBI36
NG_008341.1:g.42063C>G
NG_008341.2:g.42063C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3241C>G (PEX1) MANE Select	ENSP00000248633.4:p.Leu1081Val
ENST00000248633.8:c.3241C>G (PEX1)	ENSP00000248633.4:p.Leu1081Val
ENST00000428214.5:c.3070C>G (PEX1)	ENSP00000394413.1:p.Leu1024Val
ENST00000438045.5:c.2275C>G (PEX1)	ENSP00000410438.1:p.Leu759Val
ENST00000484913.5:n.3280C>G (PEX1)
ENST00000496420.5:n.4296C>G (PEX1)
NM_000466.2:c.3241C>G (PEX1)	NP_000457.1:p.Leu1081Val
NM_001282677.1:c.3070C>G (PEX1)	NP_001269606.1:p.Leu1024Val
NM_001282678.1:c.2617C>G (PEX1)	NP_001269607.1:p.Leu873Val
XM_005250433.3:c.1492C>G (PEX1)	XP_005250490.1:p.Leu498Val
XR_242246.3:n.3337C>G (PEX1)
XM_017012319.2:c.1492C>G (PEX1)	XP_016867808.1:p.Leu498Val
XR_001744808.2:n.2268C>G (PEX1)
XR_001744842.2:n.2507G>C (GATAD1)
XR_001744843.2:n.2438G>C (GATAD1)
XR_002956472.1:n.2564G>C (GATAD1)
XR_002956473.1:n.2595G>C (GATAD1)
XR_002956474.1:n.2512G>C (GATAD1)
XR_242246.5:n.3288C>G (PEX1)
XR_927494.3:n.1289G>C (GATAD1)
XR_927500.3:n.1286G>C (GATAD1)
XR_927503.3:n.1220G>C (GATAD1)
NM_000466.3:c.3241C>G (PEX1) MANE Select	NP_000457.1:p.Leu1081Val
NM_001282677.2:c.3070C>G (PEX1)	NP_001269606.1:p.Leu1024Val
NM_001282678.2:c.2617C>G (PEX1)	NP_001269607.1:p.Leu873Val