Canonical Allele Identifier: CA368167336

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123625G>C (hg19) ; chr7:g.92494311G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494311G>C , CM000669.2:g.92494311G>C	GRCh38
NC_000007.13:g.92123625G>C , CM000669.1:g.92123625G>C	GRCh37
NC_000007.12:g.91961561G>C	NCBI36
NG_008341.1:g.39221C>G
NG_008341.2:g.39221C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3012C>G (PEX1) MANE Select	ENSP00000248633.4:p.Tyr1004Ter
ENST00000248633.8:c.3012C>G (PEX1)	ENSP00000248633.4:p.Tyr1004Ter
ENST00000428214.5:c.2841C>G (PEX1)	ENSP00000394413.1:p.Tyr947Ter
ENST00000438045.5:c.2046C>G (PEX1)	ENSP00000410438.1:p.Tyr682Ter
ENST00000484913.5:n.3051C>G (PEX1)
ENST00000496420.5:n.2904C>G (PEX1)
NM_000466.2:c.3012C>G (PEX1)	NP_000457.1:p.Tyr1004Ter
NM_001282677.1:c.2841C>G (PEX1)	NP_001269606.1:p.Tyr947Ter
NM_001282678.1:c.2388C>G (PEX1)	NP_001269607.1:p.Tyr796Ter
XM_005250433.3:c.1263C>G (PEX1)	XP_005250490.1:p.Tyr421Ter
XR_242246.3:n.3108C>G (PEX1)
XM_017012319.2:c.1263C>G (PEX1)	XP_016867808.1:p.Tyr421Ter
XR_001744808.2:n.2039C>G (PEX1)
XR_001744843.2:n.5280G>C (GATAD1)
XR_242246.5:n.3059C>G (PEX1)
XR_927494.3:n.4131G>C (GATAD1)
XR_927503.3:n.4062G>C (GATAD1)
NM_000466.3:c.3012C>G (PEX1) MANE Select	NP_000457.1:p.Tyr1004Ter
NM_001282677.2:c.2841C>G (PEX1)	NP_001269606.1:p.Tyr947Ter
NM_001282678.2:c.2388C>G (PEX1)	NP_001269607.1:p.Tyr796Ter