Canonical Allele Identifier: CA4340859

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 2145528
• ClinVar RCV Id: RCV003065078
• dbSNP Id: rs751747691
• ExAC: 7:92120753 T / C
• gnomAD v2: 7-92120753-T-C
• gnomAD v3: 7-92491439-T-C
• gnomAD v4: 7-92491439-T-C
• MyVariant Identifiers: chr7:g.92120753T>C (hg19) ; chr7:g.92491439T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491439T>C , CM000669.2:g.92491439T>C	GRCh38
NC_000007.13:g.92120753T>C , CM000669.1:g.92120753T>C	GRCh37
NC_000007.12:g.91958689T>C	NCBI36
NG_008341.1:g.42093A>G
NG_008341.2:g.42093A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3271A>G (PEX1) MANE Select	ENSP00000248633.4:p.Ser1091Gly
ENST00000248633.8:c.3271A>G (PEX1)	ENSP00000248633.4:p.Ser1091Gly
ENST00000428214.5:c.3100A>G (PEX1)	ENSP00000394413.1:p.Ser1034Gly
ENST00000438045.5:c.2305A>G (PEX1)	ENSP00000410438.1:p.Ser769Gly
ENST00000484913.5:n.3310A>G (PEX1)
ENST00000496420.5:n.4326A>G (PEX1)
NM_000466.2:c.3271A>G (PEX1)	NP_000457.1:p.Ser1091Gly
NM_001282677.1:c.3100A>G (PEX1)	NP_001269606.1:p.Ser1034Gly
NM_001282678.1:c.2647A>G (PEX1)	NP_001269607.1:p.Ser883Gly
XM_005250433.3:c.1522A>G (PEX1)	XP_005250490.1:p.Ser508Gly
XR_242246.3:n.3367A>G (PEX1)
XM_017012319.2:c.1522A>G (PEX1)	XP_016867808.1:p.Ser508Gly
XR_001744808.2:n.2298A>G (PEX1)
XR_001744842.2:n.2477T>C (GATAD1)
XR_001744843.2:n.2408T>C (GATAD1)
XR_002956472.1:n.2534T>C (GATAD1)
XR_002956473.1:n.2565T>C (GATAD1)
XR_002956474.1:n.2482T>C (GATAD1)
XR_242246.5:n.3318A>G (PEX1)
XR_927494.3:n.1259T>C (GATAD1)
XR_927500.3:n.1256T>C (GATAD1)
XR_927503.3:n.1190T>C (GATAD1)
NM_000466.3:c.3271A>G (PEX1) MANE Select	NP_000457.1:p.Ser1091Gly
NM_001282677.2:c.3100A>G (PEX1)	NP_001269606.1:p.Ser1034Gly
NM_001282678.2:c.2647A>G (PEX1)	NP_001269607.1:p.Ser883Gly