Canonical Allele Identifier: CA2578938032

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506397-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506397G>A , CM000669.2:g.92506397G>A	GRCh38
NC_000007.13:g.92135711G>A , CM000669.1:g.92135711G>A	GRCh37
NC_000007.12:g.91973647G>A	NCBI36
NG_008341.1:g.27135C>T
NG_008341.2:g.27135C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-53C>T MANE Select	ENSP00000248633.4:n.1804-53C>T
ENST00000248633.8:c.1804-53C>T	ENSP00000248633.4:n.1804-53C>T
ENST00000422866.1:c.622-53C>T
ENST00000428214.5:c.1804-53C>T	ENSP00000394413.1:n.1804-53C>T
ENST00000438045.5:c.838-53C>T	ENSP00000410438.1:n.838-53C>T
ENST00000484913.5:n.1843-53C>T
ENST00000496420.5:n.1427C>T
NM_000466.2:c.1804-53C>T	NP_000457.1:n.1804-53C>T
NM_001282677.1:c.1804-53C>T	NP_001269606.1:n.1804-53C>T
NM_001282678.1:c.1180-53C>T	NP_001269607.1:n.1180-53C>T
XM_005250433.3:c.55-53C>T	XP_005250490.1:n.55-53C>T
XR_242246.3:n.1900-53C>T
XM_017012319.2:c.55-53C>T	XP_016867808.1:n.55-53C>T
XR_001744808.2:n.831-53C>T
XR_242246.5:n.1851-53C>T
NM_000466.3:c.1804-53C>T MANE Select	NP_000457.1:n.1804-53C>T
NM_001282677.2:c.1804-53C>T	NP_001269606.1:n.1804-53C>T
NM_001282678.2:c.1180-53C>T	NP_001269607.1:n.1180-53C>T