Canonical Allele Identifier: CA368202946

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1914104
• ClinVar RCV Id: RCV002590216
• gnomAD v4: 7-92519012-C-A
• MyVariant Identifiers: chr7:g.92148326C>A (hg19) ; chr7:g.92519012C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519012C>A , CM000669.2:g.92519012C>A	GRCh38
NC_000007.13:g.92148326C>A , CM000669.1:g.92148326C>A	GRCh37
NC_000007.12:g.91986262C>A	NCBI36
NG_008341.1:g.14520G>T
NG_008341.2:g.14520G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.340G>T MANE Select	ENSP00000248633.4:p.Asp114Tyr
ENST00000248633.8:c.340G>T	ENSP00000248633.4:p.Asp114Tyr
ENST00000428214.5:c.340G>T	ENSP00000394413.1:p.Asp114Tyr
ENST00000438045.5:c.273+3090G>T	ENSP00000410438.1:n.273+3090G>T
ENST00000484913.5:n.344G>T
NM_000466.2:c.340G>T	NP_000457.1:p.Asp114Tyr
NM_001282677.1:c.340G>T	NP_001269606.1:p.Asp114Tyr
NM_001282678.1:c.-320G>T	NP_001269607.1:n.-320G>T
XR_242246.3:n.436G>T
XR_242246.5:n.387G>T
NM_000466.3:c.340G>T MANE Select	NP_000457.1:p.Asp114Tyr
NM_001282677.2:c.340G>T	NP_001269606.1:p.Asp114Tyr
NM_001282678.2:c.-320G>T	NP_001269607.1:n.-320G>T