Canonical Allele Identifier: CA393756875

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89866720T>A (hg19) ; chr15:g.89323489T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323489T>A , CM000677.2:g.89323489T>A	GRCh38
NC_000015.9:g.89866720T>A , CM000677.1:g.89866720T>A	GRCh37
NC_000015.8:g.87667724T>A	NCBI36
NG_008218.1:g.16307A>T
NG_008218.2:g.16307A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2180A>T	ENSP00000516154.1:p.Asp727Val
ENST00000268124.11:c.2180A>T MANE Select	ENSP00000268124.5:p.Asp727Val
ENST00000530292.3:c.1781A>T	ENSP00000432885.2:p.Asp594Val
ENST00000635986.2:c.2180A>T	ENSP00000490653.2:p.Asp727Val
ENST00000636774.1:c.*747A>T	ENSP00000489799.1:n.*747A>T
ENST00000637238.1:c.877A>T	ENSP00000490756.1:n.877A>T
ENST00000637264.1:c.1252A>T
ENST00000666746.1:c.1757A>T
ENST00000670281.1:c.500A>T	ENSP00000499709.1:p.Asp167Val
ENST00000672071.1:n.2378A>T
ENST00000672923.2:n.2283A>T
ENST00000268124.9:c.2180A>T	ENSP00000268124.5:p.Asp727Val
ENST00000442287.6:c.2180A>T	ENSP00000399851.2:p.Asp727Val
ENST00000526314.2:c.539+326A>T
ENST00000526398.1:c.329A>T
ENST00000532584.5:n.382A>T
ENST00000631044.2:c.*1604A>T	ENSP00000486730.1:n.*1604A>T
NM_001126131.1:c.2180A>T	NP_001119603.1:p.Asp727Val
NM_002693.2:c.2180A>T	NP_002684.1:p.Asp727Val
NM_001126131.2:c.2180A>T	NP_001119603.1:p.Asp727Val
NM_002693.3:c.2180A>T MANE Select	NP_002684.1:p.Asp727Val