Canonical Allele Identifier: CA393758950

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89868693A>G (hg19) ; chr15:g.89325462A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325462A>G , CM000677.2:g.89325462A>G	GRCh38
NC_000015.9:g.89868693A>G , CM000677.1:g.89868693A>G	GRCh37
NC_000015.8:g.87669697A>G	NCBI36
NG_008218.1:g.14334T>C
NG_008218.2:g.14334T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1937T>C	ENSP00000516154.1:p.Val646Ala
ENST00000268124.11:c.1937T>C MANE Select	ENSP00000268124.5:p.Val646Ala
ENST00000530292.3:c.1538T>C	ENSP00000432885.2:p.Val513Ala
ENST00000635986.2:c.1937T>C	ENSP00000490653.2:p.Val646Ala
ENST00000636774.1:c.*504T>C	ENSP00000489799.1:n.*504T>C
ENST00000637238.1:c.646+28T>C	ENSP00000490756.1:n.646+28T>C
ENST00000637264.1:c.1009T>C
ENST00000666746.1:c.1514T>C
ENST00000670281.1:c.257T>C	ENSP00000499709.1:p.Val86Ala
ENST00000672071.1:n.2135T>C
ENST00000672923.2:n.2040T>C
ENST00000268124.9:c.1937T>C	ENSP00000268124.5:p.Val646Ala
ENST00000442287.6:c.1937T>C	ENSP00000399851.2:p.Val646Ala
ENST00000526314.2:c.319T>C
ENST00000526398.1:c.126T>C
ENST00000526573.1:n.23T>C
ENST00000532584.5:n.139T>C
ENST00000631044.2:c.*1320T>C	ENSP00000486730.1:n.*1320T>C
NM_001126131.1:c.1937T>C	NP_001119603.1:p.Val646Ala
NM_002693.2:c.1937T>C	NP_002684.1:p.Val646Ala
NM_001126131.2:c.1937T>C	NP_001119603.1:p.Val646Ala
NM_002693.3:c.1937T>C MANE Select	NP_002684.1:p.Val646Ala