Canonical Allele Identifier: CA393759464

Gene: POLG

Linked Data

• dbSNP Id: rs1463396518
• gnomAD v2: 15-89868891-A-G
• gnomAD v4: 15-89325660-A-G
• MyVariant Identifiers: chr15:g.89868891A>G (hg19) ; chr15:g.89325660A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325660A>G , CM000677.2:g.89325660A>G	GRCh38
NC_000015.9:g.89868891A>G , CM000677.1:g.89868891A>G	GRCh37
NC_000015.8:g.87669895A>G	NCBI36
NG_008218.1:g.14136T>C
NG_008218.2:g.14136T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1739T>C	ENSP00000516154.1:p.Leu580Pro
ENST00000268124.11:c.1739T>C MANE Select	ENSP00000268124.5:p.Leu580Pro
ENST00000530292.3:c.1340T>C	ENSP00000432885.2:p.Leu447Pro
ENST00000635986.2:c.1739T>C	ENSP00000490653.2:p.Leu580Pro
ENST00000636774.1:c.*306T>C	ENSP00000489799.1:n.*306T>C
ENST00000637238.1:c.476T>C	ENSP00000490756.1:p.Leu159Pro
ENST00000637264.1:c.811T>C
ENST00000666746.1:c.1316T>C
ENST00000670281.1:c.59T>C	ENSP00000499709.1:p.Leu20Pro
ENST00000672071.1:n.1937T>C
ENST00000672923.2:n.1842T>C
ENST00000268124.9:c.1739T>C	ENSP00000268124.5:p.Leu580Pro
ENST00000442287.6:c.1739T>C	ENSP00000399851.2:p.Leu580Pro
ENST00000526314.2:c.121T>C
ENST00000631044.2:c.*1122T>C	ENSP00000486730.1:n.*1122T>C
NM_001126131.1:c.1739T>C	NP_001119603.1:p.Leu580Pro
NM_002693.2:c.1739T>C	NP_002684.1:p.Leu580Pro
NM_001126131.2:c.1739T>C	NP_001119603.1:p.Leu580Pro
NM_002693.3:c.1739T>C MANE Select	NP_002684.1:p.Leu580Pro