Canonical Allele Identifier: CA161973010

Gene: PEX1

Linked Data

• dbSNP Id: rs181881915
• gnomAD v2: 7-92146445-C-T
• gnomAD v3: 7-92517131-C-T
• gnomAD v4: 7-92517131-C-T
• MyVariant Identifiers: chr7:g.92146445C>T (hg19) ; chr7:g.92517131C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517131C>T , CM000669.2:g.92517131C>T	GRCh38
NC_000007.13:g.92146445C>T , CM000669.1:g.92146445C>T	GRCh37
NC_000007.12:g.91984381C>T	NCBI36
NG_008341.1:g.16401G>A
NG_008341.2:g.16401G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1239+145G>A MANE Select	ENSP00000248633.4:n.1239+145G>A
ENST00000248633.8:c.1239+145G>A	ENSP00000248633.4:n.1239+145G>A
ENST00000422866.1:c.140+145G>A
ENST00000428214.5:c.1239+145G>A	ENSP00000394413.1:n.1239+145G>A
ENST00000438045.5:c.274-3164G>A	ENSP00000410438.1:n.274-3164G>A
ENST00000484913.5:n.1278+145G>A
NM_000466.2:c.1239+145G>A	NP_000457.1:n.1239+145G>A
NM_001282677.1:c.1239+145G>A	NP_001269606.1:n.1239+145G>A
NM_001282678.1:c.615+145G>A	NP_001269607.1:n.615+145G>A
XR_242246.3:n.1335+145G>A
XM_017012319.2:c.-428+145G>A	XP_016867808.1:n.-428+145G>A
XR_001744808.2:n.349+145G>A
XR_242246.5:n.1286+145G>A
NM_000466.3:c.1239+145G>A MANE Select	NP_000457.1:n.1239+145G>A
NM_001282677.2:c.1239+145G>A	NP_001269606.1:n.1239+145G>A
NM_001282678.2:c.615+145G>A	NP_001269607.1:n.615+145G>A