Canonical Allele Identifier: CA393749932

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89861908T>G (hg19) ; chr15:g.89318677T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318677T>G , CM000677.2:g.89318677T>G	GRCh38
NC_000015.9:g.89861908T>G , CM000677.1:g.89861908T>G	GRCh37
NC_000015.8:g.87662912T>G	NCBI36
NG_008218.1:g.21119A>C
NG_011736.1:g.79715T>G , LRG_500:g.79715T>G
NG_008218.2:g.21119A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3346A>C	ENSP00000516154.1:p.Met1116Leu
ENST00000268124.11:c.3346A>C MANE Select	ENSP00000268124.5:p.Met1116Leu
ENST00000530292.3:c.2947A>C	ENSP00000432885.2:p.Met983Leu
ENST00000635986.2:c.*416A>C	ENSP00000490653.2:n.*416A>C
ENST00000636774.1:c.*1913A>C	ENSP00000489799.1:n.*1913A>C
ENST00000637238.1:c.2155A>C	ENSP00000490756.1:n.2155A>C
ENST00000637264.1:c.2418A>C
ENST00000666746.1:c.2923A>C
ENST00000672071.1:n.3544A>C
ENST00000672695.1:n.523A>C
ENST00000672923.2:n.3346A>C
ENST00000268124.9:c.3346A>C	ENSP00000268124.5:p.Met1116Leu
ENST00000442287.6:c.3346A>C	ENSP00000399851.2:p.Met1116Leu
ENST00000530292.2:c.430A>C	ENSP00000432885.1:p.Met144Leu
ENST00000631044.2:c.*2770A>C	ENSP00000486730.1:n.*2770A>C
NM_001126131.1:c.3346A>C	NP_001119603.1:p.Met1116Leu
NM_002693.2:c.3346A>C	NP_002684.1:p.Met1116Leu
NM_001126131.2:c.3346A>C	NP_001119603.1:p.Met1116Leu
NM_002693.3:c.3346A>C MANE Select	NP_002684.1:p.Met1116Leu