Canonical Allele Identifier: CA161955394

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1007605651
• gnomAD v3: 7-92494304-G-A
• gnomAD v4: 7-92494304-G-A
• MyVariant Identifiers: chr7:g.92123618G>A (hg19) ; chr7:g.92494304G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494304G>A , CM000669.2:g.92494304G>A	GRCh38
NC_000007.13:g.92123618G>A , CM000669.1:g.92123618G>A	GRCh37
NC_000007.12:g.91961554G>A	NCBI36
NG_008341.1:g.39228C>T
NG_008341.2:g.39228C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3019C>T (PEX1) MANE Select	ENSP00000248633.4:p.Pro1007Ser
ENST00000248633.8:c.3019C>T (PEX1)	ENSP00000248633.4:p.Pro1007Ser
ENST00000428214.5:c.2848C>T (PEX1)	ENSP00000394413.1:p.Pro950Ser
ENST00000438045.5:c.2053C>T (PEX1)	ENSP00000410438.1:p.Pro685Ser
ENST00000484913.5:n.3058C>T (PEX1)
ENST00000496420.5:n.2911C>T (PEX1)
NM_000466.2:c.3019C>T (PEX1)	NP_000457.1:p.Pro1007Ser
NM_001282677.1:c.2848C>T (PEX1)	NP_001269606.1:p.Pro950Ser
NM_001282678.1:c.2395C>T (PEX1)	NP_001269607.1:p.Pro799Ser
XM_005250433.3:c.1270C>T (PEX1)	XP_005250490.1:p.Pro424Ser
XR_242246.3:n.3115C>T (PEX1)
XM_017012319.2:c.1270C>T (PEX1)	XP_016867808.1:p.Pro424Ser
XR_001744808.2:n.2046C>T (PEX1)
XR_001744843.2:n.5273G>A (GATAD1)
XR_242246.5:n.3066C>T (PEX1)
XR_927494.3:n.4124G>A (GATAD1)
XR_927503.3:n.4055G>A (GATAD1)
NM_000466.3:c.3019C>T (PEX1) MANE Select	NP_000457.1:p.Pro1007Ser
NM_001282677.2:c.2848C>T (PEX1)	NP_001269606.1:p.Pro950Ser
NM_001282678.2:c.2395C>T (PEX1)	NP_001269607.1:p.Pro799Ser