Canonical Allele Identifier: CA316604

Gene: POLG

Linked Data

• ClinVar Variation Id: 206475
• ClinVar RCV Id: RCV000188524 ; RCV000633541 ; RCV000768050 ; RCV002321760 ; RCV003993874
• dbSNP Id: rs765949668
• ExAC: 15:89861931 T / A
• gnomAD v2: 15-89861931-T-A
• gnomAD v3: 15-89318700-T-A
• gnomAD v4: 15-89318700-T-A
• MyVariant Identifiers: chr15:g.89861931T>A (hg19) ; chr15:g.89318700T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318700T>A , CM000677.2:g.89318700T>A	GRCh38
NC_000015.9:g.89861931T>A , CM000677.1:g.89861931T>A	GRCh37
NC_000015.8:g.87662935T>A	NCBI36
NG_008218.1:g.21096A>T
NG_011736.1:g.79738T>A , LRG_500:g.79738T>A
NG_008218.2:g.21096A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3323A>T	ENSP00000516154.1:p.Tyr1108Phe
ENST00000268124.11:c.3323A>T MANE Select	ENSP00000268124.5:p.Tyr1108Phe
ENST00000530292.3:c.2924A>T	ENSP00000432885.2:p.Tyr975Phe
ENST00000635986.2:c.*393A>T	ENSP00000490653.2:n.*393A>T
ENST00000636774.1:c.*1890A>T	ENSP00000489799.1:n.*1890A>T
ENST00000637238.1:c.2132A>T	ENSP00000490756.1:n.2132A>T
ENST00000637264.1:c.2395A>T
ENST00000666746.1:c.2900A>T
ENST00000672071.1:n.3521A>T
ENST00000672695.1:n.500A>T
ENST00000672923.2:n.3323A>T
ENST00000268124.9:c.3323A>T	ENSP00000268124.5:p.Tyr1108Phe
ENST00000442287.6:c.3323A>T	ENSP00000399851.2:p.Tyr1108Phe
ENST00000530292.2:c.407A>T	ENSP00000432885.1:p.Tyr136Phe
ENST00000631044.2:c.*2747A>T	ENSP00000486730.1:n.*2747A>T
NM_001126131.1:c.3323A>T	NP_001119603.1:p.Tyr1108Phe
NM_002693.2:c.3323A>T	NP_002684.1:p.Tyr1108Phe
NM_001126131.2:c.3323A>T	NP_001119603.1:p.Tyr1108Phe
NM_002693.3:c.3323A>T MANE Select	NP_002684.1:p.Tyr1108Phe