Canonical Allele Identifier: CA161968395

Gene: PEX1

Linked Data

• dbSNP Id: rs150104995
• gnomAD v2: 7-92140176-G-A
• gnomAD v3: 7-92510862-G-A
• gnomAD v4: 7-92510862-G-A
• MyVariant Identifiers: chr7:g.92140176G>A (hg19) ; chr7:g.92510862G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510862G>A , CM000669.2:g.92510862G>A	GRCh38
NC_000007.13:g.92140176G>A , CM000669.1:g.92140176G>A	GRCh37
NC_000007.12:g.91978112G>A	NCBI36
NG_008341.1:g.22670C>T
NG_008341.2:g.22670C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1587+82C>T MANE Select	ENSP00000248633.4:n.1587+82C>T
ENST00000248633.8:c.1587+82C>T	ENSP00000248633.4:n.1587+82C>T
ENST00000422866.1:c.488+82C>T
ENST00000428214.5:c.1587+82C>T	ENSP00000394413.1:n.1587+82C>T
ENST00000438045.5:c.621+82C>T	ENSP00000410438.1:n.621+82C>T
ENST00000484913.5:n.1626+82C>T
NM_000466.2:c.1587+82C>T	NP_000457.1:n.1587+82C>T
NM_001282677.1:c.1587+82C>T	NP_001269606.1:n.1587+82C>T
NM_001282678.1:c.963+82C>T	NP_001269607.1:n.963+82C>T
XM_005250433.3:c.-80+82C>T	XP_005250490.1:n.-80+82C>T
XR_242246.3:n.1683+82C>T
XM_017012319.2:c.-80+82C>T	XP_016867808.1:n.-80+82C>T
XR_001744808.2:n.697+82C>T
XR_242246.5:n.1634+82C>T
NM_000466.3:c.1587+82C>T MANE Select	NP_000457.1:n.1587+82C>T
NM_001282677.2:c.1587+82C>T	NP_001269606.1:n.1587+82C>T
NM_001282678.2:c.963+82C>T	NP_001269607.1:n.963+82C>T