Canonical Allele Identifier: CA393747433

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89860667T>A (hg19) ; chr15:g.89317436T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317436T>A , CM000677.2:g.89317436T>A	GRCh38
NC_000015.9:g.89860667T>A , CM000677.1:g.89860667T>A	GRCh37
NC_000015.8:g.87661671T>A	NCBI36
NG_008218.1:g.22360A>T
NG_011736.1:g.78474T>A , LRG_500:g.78474T>A
NG_008218.2:g.22360A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3583A>T	ENSP00000516154.1:p.Met1195Leu
ENST00000268124.11:c.3583A>T MANE Select	ENSP00000268124.5:p.Met1195Leu
ENST00000530292.3:c.3283A>T	ENSP00000432885.2:n.3283A>T
ENST00000635986.2:c.*653A>T	ENSP00000490653.2:n.*653A>T
ENST00000636774.1:c.*2187A>T	ENSP00000489799.1:n.*2187A>T
ENST00000637238.1:c.2491A>T	ENSP00000490756.1:n.2491A>T
ENST00000637264.1:c.2595A>T
ENST00000666746.1:c.3160A>T
ENST00000672071.1:n.4785A>T
ENST00000672695.1:n.1362A>T
ENST00000672923.2:n.3583A>T
ENST00000268124.9:c.3583A>T	ENSP00000268124.5:p.Met1195Leu
ENST00000442287.6:c.3583A>T	ENSP00000399851.2:p.Met1195Leu
ENST00000526671.1:n.393A>T
ENST00000530292.2:c.766A>T	ENSP00000432885.1:n.766A>T
ENST00000631044.2:c.*3007A>T	ENSP00000486730.1:n.*3007A>T
NM_001126131.1:c.3583A>T	NP_001119603.1:p.Met1195Leu
NM_002693.2:c.3583A>T	NP_002684.1:p.Met1195Leu
NM_001126131.2:c.3583A>T	NP_001119603.1:p.Met1195Leu
NM_002693.3:c.3583A>T MANE Select	NP_002684.1:p.Met1195Leu