Canonical Allele Identifier: CA393754269

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89864989C>A (hg19) ; chr15:g.89321758C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321758C>A , CM000677.2:g.89321758C>A	GRCh38
NC_000015.9:g.89864989C>A , CM000677.1:g.89864989C>A	GRCh37
NC_000015.8:g.87665993C>A	NCBI36
NG_008218.1:g.18038G>T
NG_008218.2:g.18038G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2576G>T	ENSP00000516154.1:p.Trp859Leu
ENST00000268124.11:c.2576G>T MANE Select	ENSP00000268124.5:p.Trp859Leu
ENST00000530292.3:c.2177G>T	ENSP00000432885.2:p.Trp726Leu
ENST00000635986.2:c.2576G>T	ENSP00000490653.2:p.Trp859Leu
ENST00000636774.1:c.*1143G>T	ENSP00000489799.1:n.*1143G>T
ENST00000637238.1:c.1273G>T	ENSP00000490756.1:n.1273G>T
ENST00000637264.1:c.1648G>T
ENST00000666746.1:c.2153G>T
ENST00000670281.1:c.800+204G>T	ENSP00000499709.1:n.800+204G>T
ENST00000672071.1:n.2774G>T
ENST00000672923.2:n.2518G>T
ENST00000268124.9:c.2576G>T	ENSP00000268124.5:p.Trp859Leu
ENST00000442287.6:c.2576G>T	ENSP00000399851.2:p.Trp859Leu
ENST00000528881.2:c.196-498G>T
ENST00000530715.5:c.186-889G>T	ENSP00000431395.1:n.186-889G>T
ENST00000631044.2:c.*2000G>T	ENSP00000486730.1:n.*2000G>T
NM_001126131.1:c.2576G>T	NP_001119603.1:p.Trp859Leu
NM_002693.2:c.2576G>T	NP_002684.1:p.Trp859Leu
NM_001126131.2:c.2576G>T	NP_001119603.1:p.Trp859Leu
NM_002693.3:c.2576G>T MANE Select	NP_002684.1:p.Trp859Leu