Canonical Allele Identifier: CA243335

Gene: PEX16

Linked Data

• ClinVar Variation Id: 196397
• ClinVar RCV Id: RCV000177215 ; RCV000358606 ; RCV000766831 ; RCV001079444 ; RCV003955053
• dbSNP Id: rs149348130
• ExAC: 11:45937799 C / A
• gnomAD v2: 11-45937799-C-A
• gnomAD v3: 11-45916248-C-A
• gnomAD v4: 11-45916248-C-A
• MyVariant Identifiers: chr11:g.45937799C>A (hg19) ; chr11:g.45916248C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45916248C>A , CM000673.2:g.45916248C>A	GRCh38
NC_000011.9:g.45937799C>A , CM000673.1:g.45937799C>A	GRCh37
NC_000011.8:g.45894375C>A	NCBI36
NG_008460.1:g.6876G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.204G>T MANE Select	ENSP00000368024.5:p.Glu68Asp
ENST00000241041.7:c.204G>T	ENSP00000241041.3:p.Glu68Asp
ENST00000378750.9:c.204G>T	ENSP00000368024.5:p.Glu68Asp
ENST00000525192.5:c.-82G>T	ENSP00000431309.1:n.-82G>T
ENST00000525229.5:c.*157G>T	ENSP00000431132.1:n.*157G>T
ENST00000528674.5:c.*103G>T	ENSP00000434060.1:n.*103G>T
ENST00000529030.1:c.*189G>T	ENSP00000432486.1:n.*189G>T
ENST00000532554.5:n.131-680G>T
ENST00000532681.5:c.-82G>T	ENSP00000434654.1:n.-82G>T
ENST00000533151.5:c.148+1210G>T	ENSP00000433045.1:n.148+1210G>T
NM_004813.2:c.204G>T	NP_004804.1:p.Glu68Asp
NM_057174.2:c.204G>T	NP_476515.1:p.Glu68Asp
XM_011520474.1:c.81G>T	XP_011518776.1:p.Glu27Asp
NM_004813.3:c.204G>T	NP_004804.1:p.Glu68Asp
NM_004813.4:c.204G>T MANE Select	NP_004804.2:p.Glu68Asp
NM_057174.3:c.204G>T	NP_476515.2:p.Glu68Asp