Canonical Allele Identifier: CA393754485

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89865035C>A (hg19) ; chr15:g.89321804C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321804C>A , CM000677.2:g.89321804C>A	GRCh38
NC_000015.9:g.89865035C>A , CM000677.1:g.89865035C>A	GRCh37
NC_000015.8:g.87666039C>A	NCBI36
NG_008218.1:g.17992G>T
NG_008218.2:g.17992G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2530G>T	ENSP00000516154.1:p.Val844Leu
ENST00000268124.11:c.2530G>T MANE Select	ENSP00000268124.5:p.Val844Leu
ENST00000530292.3:c.2131G>T	ENSP00000432885.2:p.Val711Leu
ENST00000635986.2:c.2530G>T	ENSP00000490653.2:p.Val844Leu
ENST00000636774.1:c.*1097G>T	ENSP00000489799.1:n.*1097G>T
ENST00000637238.1:c.1227G>T	ENSP00000490756.1:n.1227G>T
ENST00000637264.1:c.1602G>T
ENST00000666746.1:c.2107G>T
ENST00000670281.1:c.800+158G>T	ENSP00000499709.1:n.800+158G>T
ENST00000672071.1:n.2728G>T
ENST00000672923.2:n.2472G>T
ENST00000268124.9:c.2530G>T	ENSP00000268124.5:p.Val844Leu
ENST00000442287.6:c.2530G>T	ENSP00000399851.2:p.Val844Leu
ENST00000528881.2:c.196-544G>T
ENST00000530715.5:c.186-935G>T	ENSP00000431395.1:n.186-935G>T
ENST00000532584.5:n.679G>T
ENST00000631044.2:c.*1954G>T	ENSP00000486730.1:n.*1954G>T
NM_001126131.1:c.2530G>T	NP_001119603.1:p.Val844Leu
NM_002693.2:c.2530G>T	NP_002684.1:p.Val844Leu
NM_001126131.2:c.2530G>T	NP_001119603.1:p.Val844Leu
NM_002693.3:c.2530G>T MANE Select	NP_002684.1:p.Val844Leu