Canonical Allele Identifier: CA393750607

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89862217G>T (hg19) ; chr15:g.89318986G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318986G>T , CM000677.2:g.89318986G>T	GRCh38
NC_000015.9:g.89862217G>T , CM000677.1:g.89862217G>T	GRCh37
NC_000015.8:g.87663221G>T	NCBI36
NG_008218.1:g.20810C>A
NG_011736.1:g.80024G>T , LRG_500:g.80024G>T
NG_008218.2:g.20810C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3218C>A	ENSP00000516154.1:p.Pro1073Gln
ENST00000268124.11:c.3218C>A MANE Select	ENSP00000268124.5:p.Pro1073Gln
ENST00000530292.3:c.2819C>A	ENSP00000432885.2:p.Pro940Gln
ENST00000635986.2:c.*288C>A	ENSP00000490653.2:n.*288C>A
ENST00000636774.1:c.*1785C>A	ENSP00000489799.1:n.*1785C>A
ENST00000637238.1:c.2027C>A	ENSP00000490756.1:n.2027C>A
ENST00000637264.1:c.2290C>A
ENST00000666746.1:c.2795C>A
ENST00000672071.1:n.3416C>A
ENST00000672695.1:n.395C>A
ENST00000672923.2:n.3218C>A
ENST00000268124.9:c.3218C>A	ENSP00000268124.5:p.Pro1073Gln
ENST00000442287.6:c.3218C>A	ENSP00000399851.2:p.Pro1073Gln
ENST00000530292.2:c.302C>A	ENSP00000432885.1:p.Pro101Gln
ENST00000631044.2:c.*2642C>A	ENSP00000486730.1:n.*2642C>A
NM_001126131.1:c.3218C>A	NP_001119603.1:p.Pro1073Gln
NM_002693.2:c.3218C>A	NP_002684.1:p.Pro1073Gln
NM_001126131.2:c.3218C>A	NP_001119603.1:p.Pro1073Gln
NM_002693.3:c.3218C>A MANE Select	NP_002684.1:p.Pro1073Gln