Canonical Allele Identifier: CA4341018

Gene: PEX1

Linked Data

• dbSNP Id: rs750059210
• ExAC: 7:92126013 C / T
• gnomAD v2: 7-92126013-C-T
• gnomAD v4: 7-92496699-C-T
• MyVariant Identifiers: chr7:g.92126013C>T (hg19) ; chr7:g.92496699C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496699C>T , CM000669.2:g.92496699C>T	GRCh38
NC_000007.13:g.92126013C>T , CM000669.1:g.92126013C>T	GRCh37
NC_000007.12:g.91963949C>T	NCBI36
NG_008341.1:g.36833G>A
NG_008341.2:g.36833G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2783+14G>A MANE Select	ENSP00000248633.4:n.2783+14G>A
ENST00000248633.8:c.2783+14G>A	ENSP00000248633.4:n.2783+14G>A
ENST00000428214.5:c.2612+14G>A	ENSP00000394413.1:n.2612+14G>A
ENST00000438045.5:c.1817+14G>A	ENSP00000410438.1:n.1817+14G>A
ENST00000484913.5:n.2822+14G>A
ENST00000496420.5:n.2675+14G>A
NM_000466.2:c.2783+14G>A	NP_000457.1:n.2783+14G>A
NM_001282677.1:c.2612+14G>A	NP_001269606.1:n.2612+14G>A
NM_001282678.1:c.2159+14G>A	NP_001269607.1:n.2159+14G>A
XM_005250433.3:c.1034+14G>A	XP_005250490.1:n.1034+14G>A
XR_242246.3:n.2879+14G>A
XM_017012319.2:c.1034+14G>A	XP_016867808.1:n.1034+14G>A
XR_001744808.2:n.1810+14G>A
XR_242246.5:n.2830+14G>A
NM_000466.3:c.2783+14G>A MANE Select	NP_000457.1:n.2783+14G>A
NM_001282677.2:c.2612+14G>A	NP_001269606.1:n.2612+14G>A
NM_001282678.2:c.2159+14G>A	NP_001269607.1:n.2159+14G>A