Canonical Allele Identifier: CA368197087

Gene: PEX1

Linked Data

• dbSNP Id: rs1397269785
• gnomAD v2: 7-92146613-C-G
• gnomAD v4: 7-92517299-C-G
• MyVariant Identifiers: chr7:g.92146613C>G (hg19) ; chr7:g.92517299C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517299C>G , CM000669.2:g.92517299C>G	GRCh38
NC_000007.13:g.92146613C>G , CM000669.1:g.92146613C>G	GRCh37
NC_000007.12:g.91984549C>G	NCBI36
NG_008341.1:g.16233G>C
NG_008341.2:g.16233G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1216G>C MANE Select	ENSP00000248633.4:p.Val406Leu
ENST00000248633.8:c.1216G>C	ENSP00000248633.4:p.Val406Leu
ENST00000422866.1:c.117G>C
ENST00000428214.5:c.1216G>C	ENSP00000394413.1:p.Val406Leu
ENST00000438045.5:c.274-3332G>C	ENSP00000410438.1:n.274-3332G>C
ENST00000484913.5:n.1255G>C
NM_000466.2:c.1216G>C	NP_000457.1:p.Val406Leu
NM_001282677.1:c.1216G>C	NP_001269606.1:p.Val406Leu
NM_001282678.1:c.592G>C	NP_001269607.1:p.Val198Leu
XR_242246.3:n.1312G>C
XM_017012319.2:c.-451G>C	XP_016867808.1:n.-451G>C
XR_001744808.2:n.326G>C
XR_242246.5:n.1263G>C
NM_000466.3:c.1216G>C MANE Select	NP_000457.1:p.Val406Leu
NM_001282677.2:c.1216G>C	NP_001269606.1:p.Val406Leu
NM_001282678.2:c.592G>C	NP_001269607.1:p.Val198Leu