Canonical Allele Identifier: CA576305580

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2823429
• ClinVar RCV Id: RCV003761046
• dbSNP Id: rs143041528
• gnomAD v2: 7-92135670-T-G
• gnomAD v3: 7-92506356-T-G
• gnomAD v4: 7-92506356-T-G
• MyVariant Identifiers: chr7:g.92135670T>G (hg19) ; chr7:g.92506356T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506356T>G , CM000669.2:g.92506356T>G	GRCh38
NC_000007.13:g.92135670T>G , CM000669.1:g.92135670T>G	GRCh37
NC_000007.12:g.91973606T>G	NCBI36
NG_008341.1:g.27176A>C
NG_008341.2:g.27176A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-12A>C MANE Select	ENSP00000248633.4:n.1804-12A>C
ENST00000248633.8:c.1804-12A>C	ENSP00000248633.4:n.1804-12A>C
ENST00000422866.1:c.622-12A>C
ENST00000428214.5:c.1804-12A>C	ENSP00000394413.1:n.1804-12A>C
ENST00000438045.5:c.838-12A>C	ENSP00000410438.1:n.838-12A>C
ENST00000484913.5:n.1843-12A>C
ENST00000496420.5:n.1468A>C
NM_000466.2:c.1804-12A>C	NP_000457.1:n.1804-12A>C
NM_001282677.1:c.1804-12A>C	NP_001269606.1:n.1804-12A>C
NM_001282678.1:c.1180-12A>C	NP_001269607.1:n.1180-12A>C
XM_005250433.3:c.55-12A>C	XP_005250490.1:n.55-12A>C
XR_242246.3:n.1900-12A>C
XM_017012319.2:c.55-12A>C	XP_016867808.1:n.55-12A>C
XR_001744808.2:n.831-12A>C
XR_242246.5:n.1851-12A>C
NM_000466.3:c.1804-12A>C MANE Select	NP_000457.1:n.1804-12A>C
NM_001282677.2:c.1804-12A>C	NP_001269606.1:n.1804-12A>C
NM_001282678.2:c.1180-12A>C	NP_001269607.1:n.1180-12A>C