Canonical Allele Identifier: CA393749714

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89861808G>C (hg19) ; chr15:g.89318577G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318577G>C , CM000677.2:g.89318577G>C	GRCh38
NC_000015.9:g.89861808G>C , CM000677.1:g.89861808G>C	GRCh37
NC_000015.8:g.87662812G>C	NCBI36
NG_008218.1:g.21219C>G
NG_011736.1:g.79615G>C , LRG_500:g.79615G>C
NG_008218.2:g.21219C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3446C>G	ENSP00000516154.1:p.Ala1149Gly
ENST00000268124.11:c.3446C>G MANE Select	ENSP00000268124.5:p.Ala1149Gly
ENST00000530292.3:c.3047C>G	ENSP00000432885.2:p.Ala1016Gly
ENST00000635986.2:c.*516C>G	ENSP00000490653.2:n.*516C>G
ENST00000636774.1:c.*2013C>G	ENSP00000489799.1:n.*2013C>G
ENST00000637238.1:c.2255C>G	ENSP00000490756.1:n.2255C>G
ENST00000637264.1:c.2518C>G
ENST00000666746.1:c.3023C>G
ENST00000672071.1:n.3644C>G
ENST00000672695.1:n.623C>G
ENST00000672923.2:n.3446C>G
ENST00000268124.9:c.3446C>G	ENSP00000268124.5:p.Ala1149Gly
ENST00000442287.6:c.3446C>G	ENSP00000399851.2:p.Ala1149Gly
ENST00000530292.2:c.530C>G	ENSP00000432885.1:p.Ala177Gly
ENST00000631044.2:c.*2870C>G	ENSP00000486730.1:n.*2870C>G
NM_001126131.1:c.3446C>G	NP_001119603.1:p.Ala1149Gly
NM_002693.2:c.3446C>G	NP_002684.1:p.Ala1149Gly
NM_001126131.2:c.3446C>G	NP_001119603.1:p.Ala1149Gly
NM_002693.3:c.3446C>G MANE Select	NP_002684.1:p.Ala1149Gly