Canonical Allele Identifier: CA492288837

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89861939A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318708A>G , CM000677.2:g.89318708A>G	GRCh38
NC_000015.9:g.89861939A>G , CM000677.1:g.89861939A>G	GRCh37
NC_000015.8:g.87662943A>G	NCBI36
NG_008218.1:g.21088T>C
NG_011736.1:g.79746A>G , LRG_500:g.79746A>G
NG_008218.2:g.21088T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3315T>C	ENSP00000516154.1:p.Ala1105=
ENST00000268124.11:c.3315T>C MANE Select	ENSP00000268124.5:p.Ala1105=
ENST00000530292.3:c.2916T>C	ENSP00000432885.2:p.Ala972=
ENST00000635986.2:c.*385T>C	ENSP00000490653.2:n.*385T>C
ENST00000636774.1:c.*1882T>C	ENSP00000489799.1:n.*1882T>C
ENST00000637238.1:c.2124T>C	ENSP00000490756.1:n.2124T>C
ENST00000637264.1:c.2387T>C
ENST00000666746.1:c.2892T>C
ENST00000672071.1:n.3513T>C
ENST00000672695.1:n.492T>C
ENST00000672923.2:n.3315T>C
ENST00000268124.9:c.3315T>C	ENSP00000268124.5:p.Ala1105=
ENST00000442287.6:c.3315T>C	ENSP00000399851.2:p.Ala1105=
ENST00000530292.2:c.399T>C	ENSP00000432885.1:p.Ala133=
ENST00000631044.2:c.*2739T>C	ENSP00000486730.1:n.*2739T>C
NM_001126131.1:c.3315T>C	NP_001119603.1:p.Ala1105=
NM_002693.2:c.3315T>C	NP_002684.1:p.Ala1105=
NM_001126131.2:c.3315T>C	NP_001119603.1:p.Ala1105=
NM_002693.3:c.3315T>C MANE Select	NP_002684.1:p.Ala1105=