Canonical Allele Identifier: CA161953317

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs943342353
• gnomAD v3: 7-92491574-G-T
• gnomAD v4: 7-92491574-G-T
• MyVariant Identifiers: chr7:g.92120888G>T (hg19) ; chr7:g.92491574G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491574G>T , CM000669.2:g.92491574G>T	GRCh38
NC_000007.13:g.92120888G>T , CM000669.1:g.92120888G>T	GRCh37
NC_000007.12:g.91958824G>T	NCBI36
NG_008341.1:g.41958C>A
NG_008341.2:g.41958C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-72C>A (PEX1) MANE Select	ENSP00000248633.4:n.3208-72C>A
ENST00000248633.8:c.3208-72C>A (PEX1)	ENSP00000248633.4:n.3208-72C>A
ENST00000428214.5:c.3037-72C>A (PEX1)	ENSP00000394413.1:n.3037-72C>A
ENST00000438045.5:c.2242-72C>A (PEX1)	ENSP00000410438.1:n.2242-72C>A
ENST00000484913.5:n.3247-72C>A (PEX1)
ENST00000496420.5:n.4263-72C>A (PEX1)
NM_000466.2:c.3208-72C>A (PEX1)	NP_000457.1:n.3208-72C>A
NM_001282677.1:c.3037-72C>A (PEX1)	NP_001269606.1:n.3037-72C>A
NM_001282678.1:c.2584-72C>A (PEX1)	NP_001269607.1:n.2584-72C>A
XM_005250433.3:c.1459-72C>A (PEX1)	XP_005250490.1:n.1459-72C>A
XR_242246.3:n.3304-72C>A (PEX1)
XM_017012319.2:c.1459-72C>A (PEX1)	XP_016867808.1:n.1459-72C>A
XR_001744808.2:n.2235-72C>A (PEX1)
XR_001744842.2:n.2612G>T (GATAD1)
XR_001744843.2:n.2543G>T (GATAD1)
XR_002956472.1:n.2669G>T (GATAD1)
XR_002956473.1:n.2700G>T (GATAD1)
XR_002956474.1:n.2617G>T (GATAD1)
XR_242246.5:n.3255-72C>A (PEX1)
XR_927494.3:n.1394G>T (GATAD1)
XR_927500.3:n.1391G>T (GATAD1)
XR_927503.3:n.1325G>T (GATAD1)
NM_000466.3:c.3208-72C>A (PEX1) MANE Select	NP_000457.1:n.3208-72C>A
NM_001282677.2:c.3037-72C>A (PEX1)	NP_001269606.1:n.3037-72C>A
NM_001282678.2:c.2584-72C>A (PEX1)	NP_001269607.1:n.2584-72C>A