Canonical Allele Identifier: CA161955393

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs796136811
• gnomAD v4: 7-92494303-G-A
• MyVariant Identifiers: chr7:g.92123617G>A (hg19) ; chr7:g.92494303G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494303G>A , CM000669.2:g.92494303G>A	GRCh38
NC_000007.13:g.92123617G>A , CM000669.1:g.92123617G>A	GRCh37
NC_000007.12:g.91961553G>A	NCBI36
NG_008341.1:g.39229C>T
NG_008341.2:g.39229C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3020C>T (PEX1) MANE Select	ENSP00000248633.4:p.Pro1007Leu
ENST00000248633.8:c.3020C>T (PEX1)	ENSP00000248633.4:p.Pro1007Leu
ENST00000428214.5:c.2849C>T (PEX1)	ENSP00000394413.1:p.Pro950Leu
ENST00000438045.5:c.2054C>T (PEX1)	ENSP00000410438.1:p.Pro685Leu
ENST00000484913.5:n.3059C>T (PEX1)
ENST00000496420.5:n.2912C>T (PEX1)
NM_000466.2:c.3020C>T (PEX1)	NP_000457.1:p.Pro1007Leu
NM_001282677.1:c.2849C>T (PEX1)	NP_001269606.1:p.Pro950Leu
NM_001282678.1:c.2396C>T (PEX1)	NP_001269607.1:p.Pro799Leu
XM_005250433.3:c.1271C>T (PEX1)	XP_005250490.1:p.Pro424Leu
XR_242246.3:n.3116C>T (PEX1)
XM_017012319.2:c.1271C>T (PEX1)	XP_016867808.1:p.Pro424Leu
XR_001744808.2:n.2047C>T (PEX1)
XR_001744843.2:n.5272G>A (GATAD1)
XR_242246.5:n.3067C>T (PEX1)
XR_927494.3:n.4123G>A (GATAD1)
XR_927503.3:n.4054G>A (GATAD1)
NM_000466.3:c.3020C>T (PEX1) MANE Select	NP_000457.1:p.Pro1007Leu
NM_001282677.2:c.2849C>T (PEX1)	NP_001269606.1:p.Pro950Leu
NM_001282678.2:c.2396C>T (PEX1)	NP_001269607.1:p.Pro799Leu