Canonical Allele Identifier: CA368163943

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120687T>A (hg19) ; chr7:g.92491373T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491373T>A , CM000669.2:g.92491373T>A	GRCh38
NC_000007.13:g.92120687T>A , CM000669.1:g.92120687T>A	GRCh37
NC_000007.12:g.91958623T>A	NCBI36
NG_008341.1:g.42159A>T
NG_008341.2:g.42159A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3337A>T (PEX1) MANE Select	ENSP00000248633.4:p.Met1113Leu
ENST00000248633.8:c.3337A>T (PEX1)	ENSP00000248633.4:p.Met1113Leu
ENST00000428214.5:c.3166A>T (PEX1)	ENSP00000394413.1:p.Met1056Leu
ENST00000438045.5:c.2371A>T (PEX1)	ENSP00000410438.1:p.Met791Leu
ENST00000484913.5:n.3376A>T (PEX1)
ENST00000496420.5:n.4392A>T (PEX1)
NM_000466.2:c.3337A>T (PEX1)	NP_000457.1:p.Met1113Leu
NM_001282677.1:c.3166A>T (PEX1)	NP_001269606.1:p.Met1056Leu
NM_001282678.1:c.2713A>T (PEX1)	NP_001269607.1:p.Met905Leu
XM_005250433.3:c.1588A>T (PEX1)	XP_005250490.1:p.Met530Leu
XR_242246.3:n.3433A>T (PEX1)
XM_017012319.2:c.1588A>T (PEX1)	XP_016867808.1:p.Met530Leu
XR_001744808.2:n.2364A>T (PEX1)
XR_001744842.2:n.2411T>A (GATAD1)
XR_001744843.2:n.2342T>A (GATAD1)
XR_002956472.1:n.2468T>A (GATAD1)
XR_002956473.1:n.2499T>A (GATAD1)
XR_002956474.1:n.2416T>A (GATAD1)
XR_242246.5:n.3384A>T (PEX1)
XR_927494.3:n.1193T>A (GATAD1)
XR_927500.3:n.1190T>A (GATAD1)
XR_927503.3:n.1124T>A (GATAD1)
NM_000466.3:c.3337A>T (PEX1) MANE Select	NP_000457.1:p.Met1113Leu
NM_001282677.2:c.3166A>T (PEX1)	NP_001269606.1:p.Met1056Leu
NM_001282678.2:c.2713A>T (PEX1)	NP_001269607.1:p.Met905Leu