Canonical Allele Identifier: CA576706624

Gene: PEX1

Linked Data

• dbSNP Id: rs751923882
• gnomAD v2: 7-92146555-T-A
• gnomAD v3: 7-92517241-T-A
• gnomAD v4: 7-92517241-T-A
• MyVariant Identifiers: chr7:g.92146555T>A (hg19) ; chr7:g.92517241T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517241T>A , CM000669.2:g.92517241T>A	GRCh38
NC_000007.13:g.92146555T>A , CM000669.1:g.92146555T>A	GRCh37
NC_000007.12:g.91984491T>A	NCBI36
NG_008341.1:g.16291A>T
NG_008341.2:g.16291A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1239+35A>T MANE Select	ENSP00000248633.4:n.1239+35A>T
ENST00000248633.8:c.1239+35A>T	ENSP00000248633.4:n.1239+35A>T
ENST00000422866.1:c.140+35A>T
ENST00000428214.5:c.1239+35A>T	ENSP00000394413.1:n.1239+35A>T
ENST00000438045.5:c.274-3274A>T	ENSP00000410438.1:n.274-3274A>T
ENST00000484913.5:n.1278+35A>T
NM_000466.2:c.1239+35A>T	NP_000457.1:n.1239+35A>T
NM_001282677.1:c.1239+35A>T	NP_001269606.1:n.1239+35A>T
NM_001282678.1:c.615+35A>T	NP_001269607.1:n.615+35A>T
XR_242246.3:n.1335+35A>T
XM_017012319.2:c.-428+35A>T	XP_016867808.1:n.-428+35A>T
XR_001744808.2:n.349+35A>T
XR_242246.5:n.1286+35A>T
NM_000466.3:c.1239+35A>T MANE Select	NP_000457.1:n.1239+35A>T
NM_001282677.2:c.1239+35A>T	NP_001269606.1:n.1239+35A>T
NM_001282678.2:c.615+35A>T	NP_001269607.1:n.615+35A>T