Canonical Allele Identifier: CA368164576

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120765G>A (hg19) ; chr7:g.92491451G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491451G>A , CM000669.2:g.92491451G>A	GRCh38
NC_000007.13:g.92120765G>A , CM000669.1:g.92120765G>A	GRCh37
NC_000007.12:g.91958701G>A	NCBI36
NG_008341.1:g.42081C>T
NG_008341.2:g.42081C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3259C>T (PEX1) MANE Select	ENSP00000248633.4:p.Leu1087Phe
ENST00000248633.8:c.3259C>T (PEX1)	ENSP00000248633.4:p.Leu1087Phe
ENST00000428214.5:c.3088C>T (PEX1)	ENSP00000394413.1:p.Leu1030Phe
ENST00000438045.5:c.2293C>T (PEX1)	ENSP00000410438.1:p.Leu765Phe
ENST00000484913.5:n.3298C>T (PEX1)
ENST00000496420.5:n.4314C>T (PEX1)
NM_000466.2:c.3259C>T (PEX1)	NP_000457.1:p.Leu1087Phe
NM_001282677.1:c.3088C>T (PEX1)	NP_001269606.1:p.Leu1030Phe
NM_001282678.1:c.2635C>T (PEX1)	NP_001269607.1:p.Leu879Phe
XM_005250433.3:c.1510C>T (PEX1)	XP_005250490.1:p.Leu504Phe
XR_242246.3:n.3355C>T (PEX1)
XM_017012319.2:c.1510C>T (PEX1)	XP_016867808.1:p.Leu504Phe
XR_001744808.2:n.2286C>T (PEX1)
XR_001744842.2:n.2489G>A (GATAD1)
XR_001744843.2:n.2420G>A (GATAD1)
XR_002956472.1:n.2546G>A (GATAD1)
XR_002956473.1:n.2577G>A (GATAD1)
XR_002956474.1:n.2494G>A (GATAD1)
XR_242246.5:n.3306C>T (PEX1)
XR_927494.3:n.1271G>A (GATAD1)
XR_927500.3:n.1268G>A (GATAD1)
XR_927503.3:n.1202G>A (GATAD1)
NM_000466.3:c.3259C>T (PEX1) MANE Select	NP_000457.1:p.Leu1087Phe
NM_001282677.2:c.3088C>T (PEX1)	NP_001269606.1:p.Leu1030Phe
NM_001282678.2:c.2635C>T (PEX1)	NP_001269607.1:p.Leu879Phe