Canonical Allele Identifier: CA368163658

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92491335-C-T
• COSMIC: COSM1093056
• MyVariant Identifiers: chr7:g.92120649C>T (hg19) ; chr7:g.92491335C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491335C>T , CM000669.2:g.92491335C>T	GRCh38
NC_000007.13:g.92120649C>T , CM000669.1:g.92120649C>T	GRCh37
NC_000007.12:g.91958585C>T	NCBI36
NG_008341.1:g.42197G>A
NG_008341.2:g.42197G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3375G>A (PEX1) MANE Select	ENSP00000248633.4:p.Met1125Ile
ENST00000248633.8:c.3375G>A (PEX1)	ENSP00000248633.4:p.Met1125Ile
ENST00000428214.5:c.3204G>A (PEX1)	ENSP00000394413.1:p.Met1068Ile
ENST00000438045.5:c.2409G>A (PEX1)	ENSP00000410438.1:p.Met803Ile
ENST00000484913.5:n.3414G>A (PEX1)
ENST00000496420.5:n.4430G>A (PEX1)
NM_000466.2:c.3375G>A (PEX1)	NP_000457.1:p.Met1125Ile
NM_001282677.1:c.3204G>A (PEX1)	NP_001269606.1:p.Met1068Ile
NM_001282678.1:c.2751G>A (PEX1)	NP_001269607.1:p.Met917Ile
XM_005250433.3:c.1626G>A (PEX1)	XP_005250490.1:p.Met542Ile
XR_242246.3:n.3471G>A (PEX1)
XM_017012319.2:c.1626G>A (PEX1)	XP_016867808.1:p.Met542Ile
XR_001744808.2:n.2402G>A (PEX1)
XR_001744842.2:n.2373C>T (GATAD1)
XR_001744843.2:n.2304C>T (GATAD1)
XR_002956472.1:n.2430C>T (GATAD1)
XR_002956473.1:n.2461C>T (GATAD1)
XR_002956474.1:n.2378C>T (GATAD1)
XR_242246.5:n.3422G>A (PEX1)
XR_927494.3:n.1155C>T (GATAD1)
XR_927500.3:n.1152C>T (GATAD1)
XR_927503.3:n.1086C>T (GATAD1)
NM_000466.3:c.3375G>A (PEX1) MANE Select	NP_000457.1:p.Met1125Ile
NM_001282677.2:c.3204G>A (PEX1)	NP_001269606.1:p.Met1068Ile
NM_001282678.2:c.2751G>A (PEX1)	NP_001269607.1:p.Met917Ile