Canonical Allele Identifier: CA368197864

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517383-C-G
• MyVariant Identifiers: chr7:g.92146697C>G (hg19) ; chr7:g.92517383C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517383C>G , CM000669.2:g.92517383C>G	GRCh38
NC_000007.13:g.92146697C>G , CM000669.1:g.92146697C>G	GRCh37
NC_000007.12:g.91984633C>G	NCBI36
NG_008341.1:g.16149G>C
NG_008341.2:g.16149G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1132G>C MANE Select	ENSP00000248633.4:p.Asp378His
ENST00000248633.8:c.1132G>C	ENSP00000248633.4:p.Asp378His
ENST00000422866.1:c.33G>C
ENST00000428214.5:c.1132G>C	ENSP00000394413.1:p.Asp378His
ENST00000438045.5:c.274-3416G>C	ENSP00000410438.1:n.274-3416G>C
ENST00000484913.5:n.1171G>C
NM_000466.2:c.1132G>C	NP_000457.1:p.Asp378His
NM_001282677.1:c.1132G>C	NP_001269606.1:p.Asp378His
NM_001282678.1:c.508G>C	NP_001269607.1:p.Asp170His
XR_242246.3:n.1228G>C
XM_017012319.2:c.-535G>C	XP_016867808.1:n.-535G>C
XR_001744808.2:n.242G>C
XR_242246.5:n.1179G>C
NM_000466.3:c.1132G>C MANE Select	NP_000457.1:p.Asp378His
NM_001282677.2:c.1132G>C	NP_001269606.1:p.Asp378His
NM_001282678.2:c.508G>C	NP_001269607.1:p.Asp170His