Canonical Allele Identifier: CA10609900

Gene: PEX10 RER1

Linked Data

• ClinVar Variation Id: 296265
• ClinVar RCV Id: RCV000316672
• dbSNP Id: rs115735911
• gnomAD v2: 1-2336853-C-T
• gnomAD v3: 1-2405414-C-T
• gnomAD v4: 1-2405414-C-T
• MyVariant Identifiers: chr1:g.2336853C>T (hg19) ; chr1:g.2405414C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2405414C>T , CM000663.2:g.2405414C>T	GRCh38
NC_000001.10:g.2336853C>T , CM000663.1:g.2336853C>T	GRCh37
NC_000001.9:g.2326713C>T	NCBI36
NG_008342.1:g.12158G>A
NG_016128.1:g.18640C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.*352G>A (PEX10)	ENSP00000288774.3:n.*352G>A
ENST00000447513.7:c.*352G>A (PEX10) MANE Select	ENSP00000407922.2:n.*352G>A
ENST00000605895.6:c.*2290C>T (RER1) MANE Select	ENSP00000475168.1:n.*2290C>T
ENST00000650293.1:c.1287G>A (PEX10)
ENST00000288774.7:c.*352G>A (PEX10)	ENSP00000288774.3:n.*352G>A
ENST00000378513.7:c.*2427C>T (RER1)	ENSP00000367774.5:n.*2427C>T
ENST00000447513.6:c.*352G>A (PEX10)	ENSP00000407922.2:n.*352G>A
ENST00000507596.5:c.*352G>A (PEX10)	ENSP00000424291.1:n.*352G>A
ENST00000605895.5:c.*2290C>T (RER1)	ENSP00000475168.1:n.*2290C>T
NM_002617.3:c.*352G>A (PEX10)	NP_002608.1:n.*352G>A
NM_007033.4:c.*2290C>T (RER1)	NP_008964.3:n.*2290C>T
NM_153818.1:c.*352G>A (PEX10)	NP_722540.1:n.*352G>A
XM_005244713.3:c.*2290C>T (RER1)	XP_005244770.2:n.*2290C>T
XM_006710306.2:c.*2290C>T (RER1)	XP_006710369.1:n.*2290C>T
XM_011540542.1:c.*2290C>T (RER1)	XP_011538844.1:n.*2290C>T
XM_011540543.1:c.*2290C>T (RER1)	XP_011538845.1:n.*2290C>T
XM_011541573.1:c.*352G>A (PEX10)	XP_011539875.1:n.*352G>A
XM_011541574.1:c.*352G>A (PEX10)	XP_011539876.1:n.*352G>A
XM_011541575.1:c.*352G>A (PEX10)	XP_011539877.1:n.*352G>A
XR_946666.1:n.1449G>A (PEX10)
XM_005244713.4:c.*2290C>T (RER1)	XP_005244770.2:n.*2290C>T
XM_011540543.2:c.*2290C>T (RER1)	XP_011538845.1:n.*2290C>T
XM_017000131.1:c.*2290C>T (RER1)	XP_016855620.1:n.*2290C>T
XM_017000132.1:c.*2290C>T (RER1)	XP_016855621.1:n.*2290C>T
XM_017000133.1:c.*2290C>T (RER1)	XP_016855622.1:n.*2290C>T
XM_017000134.1:c.*2290C>T (RER1)	XP_016855623.1:n.*2290C>T
XM_017000135.1:c.*2290C>T (RER1)	XP_016855624.1:n.*2290C>T
XR_946666.2:n.1398G>A (PEX10)
NM_007033.5:c.*2290C>T (RER1) MANE Select	NP_008964.3:n.*2290C>T
NM_001374425.1:c.*352G>A (PEX10)	NP_001361354.1:n.*352G>A
NM_001374426.1:c.*352G>A (PEX10)	NP_001361355.1:n.*352G>A
NM_001374427.1:c.*352G>A (PEX10)	NP_001361356.1:n.*352G>A
NM_002617.4:c.*352G>A (PEX10) MANE Select	NP_002608.1:n.*352G>A
NM_153818.2:c.*352G>A (PEX10)	NP_722540.1:n.*352G>A
NR_164636.1:n.1448G>A (PEX10)