Canonical Allele Identifier: CA161956923

Gene: PEX1

Linked Data

• dbSNP Id: rs556995352
• gnomAD v2: 7-92125928-T-A
• gnomAD v3: 7-92496614-T-A
• gnomAD v4: 7-92496614-T-A
• MyVariant Identifiers: chr7:g.92125928T>A (hg19) ; chr7:g.92496614T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496614T>A , CM000669.2:g.92496614T>A	GRCh38
NC_000007.13:g.92125928T>A , CM000669.1:g.92125928T>A	GRCh37
NC_000007.12:g.91963864T>A	NCBI36
NG_008341.1:g.36918A>T
NG_008341.2:g.36918A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2783+99A>T MANE Select	ENSP00000248633.4:n.2783+99A>T
ENST00000248633.8:c.2783+99A>T	ENSP00000248633.4:n.2783+99A>T
ENST00000428214.5:c.2612+99A>T	ENSP00000394413.1:n.2612+99A>T
ENST00000438045.5:c.1817+99A>T	ENSP00000410438.1:n.1817+99A>T
ENST00000484913.5:n.2822+99A>T
ENST00000496420.5:n.2675+99A>T
NM_000466.2:c.2783+99A>T	NP_000457.1:n.2783+99A>T
NM_001282677.1:c.2612+99A>T	NP_001269606.1:n.2612+99A>T
NM_001282678.1:c.2159+99A>T	NP_001269607.1:n.2159+99A>T
XM_005250433.3:c.1034+99A>T	XP_005250490.1:n.1034+99A>T
XR_242246.3:n.2879+99A>T
XM_017012319.2:c.1034+99A>T	XP_016867808.1:n.1034+99A>T
XR_001744808.2:n.1810+99A>T
XR_242246.5:n.2830+99A>T
NM_000466.3:c.2783+99A>T MANE Select	NP_000457.1:n.2783+99A>T
NM_001282677.2:c.2612+99A>T	NP_001269606.1:n.2612+99A>T
NM_001282678.2:c.2159+99A>T	NP_001269607.1:n.2159+99A>T