Canonical Allele Identifier: CA316585

Gene: POLG

Linked Data

• ClinVar Variation Id: 206462
• ClinVar RCV Id: RCV000188510 ; RCV000633561 ; RCV000768054 ; RCV001121414 ; RCV001721213 ; RCV002317140
• dbSNP Id: rs200257554
• ExAC: 15:89867387 C / T
• gnomAD v2: 15-89867387-C-T
• gnomAD v3: 15-89324156-C-T
• gnomAD v4: 15-89324156-C-T
• MyVariant Identifiers: chr15:g.89867387C>T (hg19) ; chr15:g.89324156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89324156C>T , CM000677.2:g.89324156C>T	GRCh38
NC_000015.9:g.89867387C>T , CM000677.1:g.89867387C>T	GRCh37
NC_000015.8:g.87668391C>T	NCBI36
NG_008218.1:g.15640G>A
NG_008218.2:g.15640G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2021G>A	ENSP00000516154.1:p.Gly674Asp
ENST00000268124.11:c.2021G>A MANE Select	ENSP00000268124.5:p.Gly674Asp
ENST00000530292.3:c.1622G>A	ENSP00000432885.2:p.Gly541Asp
ENST00000635986.2:c.2021G>A	ENSP00000490653.2:p.Gly674Asp
ENST00000636774.1:c.*588G>A	ENSP00000489799.1:n.*588G>A
ENST00000637238.1:c.718G>A	ENSP00000490756.1:n.718G>A
ENST00000637264.1:c.1093G>A
ENST00000666746.1:c.1598G>A
ENST00000670281.1:c.341G>A	ENSP00000499709.1:p.Gly114Asp
ENST00000672071.1:n.2219G>A
ENST00000672923.2:n.2124G>A
ENST00000268124.9:c.2021G>A	ENSP00000268124.5:p.Gly674Asp
ENST00000442287.6:c.2021G>A	ENSP00000399851.2:p.Gly674Asp
ENST00000526314.2:c.403G>A
ENST00000526398.1:c.170G>A
ENST00000526573.1:n.107G>A
ENST00000532584.5:n.223G>A
ENST00000533857.1:n.136G>A
ENST00000631044.2:c.*1404G>A	ENSP00000486730.1:n.*1404G>A
NM_001126131.1:c.2021G>A	NP_001119603.1:p.Gly674Asp
NM_002693.2:c.2021G>A	NP_002684.1:p.Gly674Asp
NM_001126131.2:c.2021G>A	NP_001119603.1:p.Gly674Asp
NM_002693.3:c.2021G>A MANE Select	NP_002684.1:p.Gly674Asp