Canonical Allele Identifier: CA161964838

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1588212
• ClinVar RCV Id: RCV002095938
• dbSNP Id: rs375207681
• gnomAD v2: 7-92134234-G-A
• gnomAD v3: 7-92504920-G-A
• gnomAD v4: 7-92504920-G-A
• MyVariant Identifiers: chr7:g.92134234G>A (hg19) ; chr7:g.92504920G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504920G>A , CM000669.2:g.92504920G>A	GRCh38
NC_000007.13:g.92134234G>A , CM000669.1:g.92134234G>A	GRCh37
NC_000007.12:g.91972170G>A	NCBI36
NG_008341.1:g.28612C>T
NG_008341.2:g.28612C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-18C>T MANE Select	ENSP00000248633.4:n.1901-18C>T
ENST00000248633.8:c.1901-18C>T	ENSP00000248633.4:n.1901-18C>T
ENST00000422866.1:c.719-18C>T
ENST00000428214.5:c.1900+1328C>T	ENSP00000394413.1:n.1900+1328C>T
ENST00000438045.5:c.935-18C>T	ENSP00000410438.1:n.935-18C>T
ENST00000484913.5:n.1940-18C>T
ENST00000496420.5:n.1577-18C>T
NM_000466.2:c.1901-18C>T	NP_000457.1:n.1901-18C>T
NM_001282677.1:c.1900+1328C>T	NP_001269606.1:n.1900+1328C>T
NM_001282678.1:c.1277-18C>T	NP_001269607.1:n.1277-18C>T
XM_005250433.3:c.152-18C>T	XP_005250490.1:n.152-18C>T
XR_242246.3:n.1997-18C>T
XM_017012319.2:c.152-18C>T	XP_016867808.1:n.152-18C>T
XR_001744808.2:n.928-18C>T
XR_242246.5:n.1948-18C>T
NM_000466.3:c.1901-18C>T MANE Select	NP_000457.1:n.1901-18C>T
NM_001282677.2:c.1900+1328C>T	NP_001269606.1:n.1900+1328C>T
NM_001282678.2:c.1277-18C>T	NP_001269607.1:n.1277-18C>T