Canonical Allele Identifier: CA2683717964

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92494432-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494432G>C , CM000669.2:g.92494432G>C	GRCh38
NC_000007.13:g.92123746G>C , CM000669.1:g.92123746G>C	GRCh37
NC_000007.12:g.91961682G>C	NCBI36
NG_008341.1:g.39100C>G
NG_008341.2:g.39100C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2927-36C>G (PEX1) MANE Select	ENSP00000248633.4:n.2927-36C>G
ENST00000248633.8:c.2927-36C>G (PEX1)	ENSP00000248633.4:n.2927-36C>G
ENST00000428214.5:c.2756-36C>G (PEX1)	ENSP00000394413.1:n.2756-36C>G
ENST00000438045.5:c.1961-36C>G (PEX1)	ENSP00000410438.1:n.1961-36C>G
ENST00000484913.5:n.2966-36C>G (PEX1)
ENST00000496420.5:n.2819-36C>G (PEX1)
NM_000466.2:c.2927-36C>G (PEX1)	NP_000457.1:n.2927-36C>G
NM_001282677.1:c.2756-36C>G (PEX1)	NP_001269606.1:n.2756-36C>G
NM_001282678.1:c.2303-36C>G (PEX1)	NP_001269607.1:n.2303-36C>G
XM_005250433.3:c.1178-36C>G (PEX1)	XP_005250490.1:n.1178-36C>G
XR_242246.3:n.3023-36C>G (PEX1)
XM_017012319.2:c.1178-36C>G (PEX1)	XP_016867808.1:n.1178-36C>G
XR_001744808.2:n.1954-36C>G (PEX1)
XR_001744843.2:n.5401G>C (GATAD1)
XR_242246.5:n.2974-36C>G (PEX1)
XR_927494.3:n.4252G>C (GATAD1)
XR_927503.3:n.4183G>C (GATAD1)
NM_000466.3:c.2927-36C>G (PEX1) MANE Select	NP_000457.1:n.2927-36C>G
NM_001282677.2:c.2756-36C>G (PEX1)	NP_001269606.1:n.2756-36C>G
NM_001282678.2:c.2303-36C>G (PEX1)	NP_001269607.1:n.2303-36C>G