Canonical Allele Identifier: CA393750595

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89862215C>G (hg19) ; chr15:g.89318984C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318984C>G , CM000677.2:g.89318984C>G	GRCh38
NC_000015.9:g.89862215C>G , CM000677.1:g.89862215C>G	GRCh37
NC_000015.8:g.87663219C>G	NCBI36
NG_008218.1:g.20812G>C
NG_011736.1:g.80022C>G , LRG_500:g.80022C>G
NG_008218.2:g.20812G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3220G>C	ENSP00000516154.1:p.Val1074Leu
ENST00000268124.11:c.3220G>C MANE Select	ENSP00000268124.5:p.Val1074Leu
ENST00000530292.3:c.2821G>C	ENSP00000432885.2:p.Val941Leu
ENST00000635986.2:c.*290G>C	ENSP00000490653.2:n.*290G>C
ENST00000636774.1:c.*1787G>C	ENSP00000489799.1:n.*1787G>C
ENST00000637238.1:c.2029G>C	ENSP00000490756.1:n.2029G>C
ENST00000637264.1:c.2292G>C
ENST00000666746.1:c.2797G>C
ENST00000672071.1:n.3418G>C
ENST00000672695.1:n.397G>C
ENST00000672923.2:n.3220G>C
ENST00000268124.9:c.3220G>C	ENSP00000268124.5:p.Val1074Leu
ENST00000442287.6:c.3220G>C	ENSP00000399851.2:p.Val1074Leu
ENST00000530292.2:c.304G>C	ENSP00000432885.1:p.Val102Leu
ENST00000631044.2:c.*2644G>C	ENSP00000486730.1:n.*2644G>C
NM_001126131.1:c.3220G>C	NP_001119603.1:p.Val1074Leu
NM_002693.2:c.3220G>C	NP_002684.1:p.Val1074Leu
NM_001126131.2:c.3220G>C	NP_001119603.1:p.Val1074Leu
NM_002693.3:c.3220G>C MANE Select	NP_002684.1:p.Val1074Leu