Canonical Allele Identifier: CA7724200

Gene: POLG

Linked Data

• ClinVar Variation Id: 619337
• ClinVar RCV Id: RCV000758325 ; RCV003326492
• dbSNP Id: rs756393846
• ExAC: 15:89862200 T / G
• gnomAD v2: 15-89862200-T-G
• gnomAD v4: 15-89318969-T-G
• MyVariant Identifiers: chr15:g.89862200T>G (hg19) ; chr15:g.89318969T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318969T>G , CM000677.2:g.89318969T>G	GRCh38
NC_000015.9:g.89862200T>G , CM000677.1:g.89862200T>G	GRCh37
NC_000015.8:g.87663204T>G	NCBI36
NG_008218.1:g.20827A>C
NG_011736.1:g.80007T>G , LRG_500:g.80007T>G
NG_008218.2:g.20827A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3235A>C	ENSP00000516154.1:p.Ile1079Leu
ENST00000268124.11:c.3235A>C MANE Select	ENSP00000268124.5:p.Ile1079Leu
ENST00000530292.3:c.2836A>C	ENSP00000432885.2:p.Ile946Leu
ENST00000635986.2:c.*305A>C	ENSP00000490653.2:n.*305A>C
ENST00000636774.1:c.*1802A>C	ENSP00000489799.1:n.*1802A>C
ENST00000637238.1:c.2044A>C	ENSP00000490756.1:n.2044A>C
ENST00000637264.1:c.2307A>C
ENST00000666746.1:c.2812A>C
ENST00000672071.1:n.3433A>C
ENST00000672695.1:n.412A>C
ENST00000672923.2:n.3235A>C
ENST00000268124.9:c.3235A>C	ENSP00000268124.5:p.Ile1079Leu
ENST00000442287.6:c.3235A>C	ENSP00000399851.2:p.Ile1079Leu
ENST00000530292.2:c.319A>C	ENSP00000432885.1:p.Ile107Leu
ENST00000631044.2:c.*2659A>C	ENSP00000486730.1:n.*2659A>C
NM_001126131.1:c.3235A>C	NP_001119603.1:p.Ile1079Leu
NM_002693.2:c.3235A>C	NP_002684.1:p.Ile1079Leu
NM_001126131.2:c.3235A>C	NP_001119603.1:p.Ile1079Leu
NM_002693.3:c.3235A>C MANE Select	NP_002684.1:p.Ile1079Leu