Canonical Allele Identifier: CA456480957

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1298359373
• gnomAD v2: 7-92120850-T-A
• gnomAD v3: 7-92491536-T-A
• gnomAD v4: 7-92491536-T-A
• MyVariant Identifiers: chr7:g.92120850T>A (hg19) ; chr7:g.92491536T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491536T>A , CM000669.2:g.92491536T>A	GRCh38
NC_000007.13:g.92120850T>A , CM000669.1:g.92120850T>A	GRCh37
NC_000007.12:g.91958786T>A	NCBI36
NG_008341.1:g.41996A>T
NG_008341.2:g.41996A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-34A>T (PEX1) MANE Select	ENSP00000248633.4:n.3208-34A>T
ENST00000248633.8:c.3208-34A>T (PEX1)	ENSP00000248633.4:n.3208-34A>T
ENST00000428214.5:c.3037-34A>T (PEX1)	ENSP00000394413.1:n.3037-34A>T
ENST00000438045.5:c.2242-34A>T (PEX1)	ENSP00000410438.1:n.2242-34A>T
ENST00000484913.5:n.3247-34A>T (PEX1)
ENST00000496420.5:n.4263-34A>T (PEX1)
NM_000466.2:c.3208-34A>T (PEX1)	NP_000457.1:n.3208-34A>T
NM_001282677.1:c.3037-34A>T (PEX1)	NP_001269606.1:n.3037-34A>T
NM_001282678.1:c.2584-34A>T (PEX1)	NP_001269607.1:n.2584-34A>T
XM_005250433.3:c.1459-34A>T (PEX1)	XP_005250490.1:n.1459-34A>T
XR_242246.3:n.3304-34A>T (PEX1)
XM_017012319.2:c.1459-34A>T (PEX1)	XP_016867808.1:n.1459-34A>T
XR_001744808.2:n.2235-34A>T (PEX1)
XR_001744842.2:n.2574T>A (GATAD1)
XR_001744843.2:n.2505T>A (GATAD1)
XR_002956472.1:n.2631T>A (GATAD1)
XR_002956473.1:n.2662T>A (GATAD1)
XR_002956474.1:n.2579T>A (GATAD1)
XR_242246.5:n.3255-34A>T (PEX1)
XR_927494.3:n.1356T>A (GATAD1)
XR_927500.3:n.1353T>A (GATAD1)
XR_927503.3:n.1287T>A (GATAD1)
NM_000466.3:c.3208-34A>T (PEX1) MANE Select	NP_000457.1:n.3208-34A>T
NM_001282677.2:c.3037-34A>T (PEX1)	NP_001269606.1:n.3037-34A>T
NM_001282678.2:c.2584-34A>T (PEX1)	NP_001269607.1:n.2584-34A>T