Canonical Allele Identifier: CA4340863

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1119856
• ClinVar RCV Id: RCV001449470
• dbSNP Id: rs770075964
• ExAC: 7:92120789 G / A
• gnomAD v2: 7-92120789-G-A
• MyVariant Identifiers: chr7:g.92120789G>A (hg19) ; chr7:g.92491475G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491475G>A , CM000669.2:g.92491475G>A	GRCh38
NC_000007.13:g.92120789G>A , CM000669.1:g.92120789G>A	GRCh37
NC_000007.12:g.91958725G>A	NCBI36
NG_008341.1:g.42057C>T
NG_008341.2:g.42057C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3235C>T (PEX1) MANE Select	ENSP00000248633.4:p.Leu1079=
ENST00000248633.8:c.3235C>T (PEX1)	ENSP00000248633.4:p.Leu1079=
ENST00000428214.5:c.3064C>T (PEX1)	ENSP00000394413.1:p.Leu1022=
ENST00000438045.5:c.2269C>T (PEX1)	ENSP00000410438.1:p.Leu757=
ENST00000484913.5:n.3274C>T (PEX1)
ENST00000496420.5:n.4290C>T (PEX1)
NM_000466.2:c.3235C>T (PEX1)	NP_000457.1:p.Leu1079=
NM_001282677.1:c.3064C>T (PEX1)	NP_001269606.1:p.Leu1022=
NM_001282678.1:c.2611C>T (PEX1)	NP_001269607.1:p.Leu871=
XM_005250433.3:c.1486C>T (PEX1)	XP_005250490.1:p.Leu496=
XR_242246.3:n.3331C>T (PEX1)
XM_017012319.2:c.1486C>T (PEX1)	XP_016867808.1:p.Leu496=
XR_001744808.2:n.2262C>T (PEX1)
XR_001744842.2:n.2513G>A (GATAD1)
XR_001744843.2:n.2444G>A (GATAD1)
XR_002956472.1:n.2570G>A (GATAD1)
XR_002956473.1:n.2601G>A (GATAD1)
XR_002956474.1:n.2518G>A (GATAD1)
XR_242246.5:n.3282C>T (PEX1)
XR_927494.3:n.1295G>A (GATAD1)
XR_927500.3:n.1292G>A (GATAD1)
XR_927503.3:n.1226G>A (GATAD1)
NM_000466.3:c.3235C>T (PEX1) MANE Select	NP_000457.1:p.Leu1079=
NM_001282677.2:c.3064C>T (PEX1)	NP_001269606.1:p.Leu1022=
NM_001282678.2:c.2611C>T (PEX1)	NP_001269607.1:p.Leu871=