Canonical Allele Identifier: CA7724166

Gene: POLG

Linked Data

• ClinVar Variation Id: 2171373
• ClinVar RCV Id: RCV003095745
• dbSNP Id: rs540638961
• ExAC: 15:89861951 T / A
• gnomAD v2: 15-89861951-T-A
• gnomAD v4: 15-89318720-T-A
• MyVariant Identifiers: chr15:g.89861951T>A (hg19) ; chr15:g.89318720T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318720T>A , CM000677.2:g.89318720T>A	GRCh38
NC_000015.9:g.89861951T>A , CM000677.1:g.89861951T>A	GRCh37
NC_000015.8:g.87662955T>A	NCBI36
NG_008218.1:g.21076A>T
NG_011736.1:g.79758T>A , LRG_500:g.79758T>A
NG_008218.2:g.21076A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3303A>T	ENSP00000516154.1:p.Val1101=
ENST00000268124.11:c.3303A>T MANE Select	ENSP00000268124.5:p.Val1101=
ENST00000530292.3:c.2904A>T	ENSP00000432885.2:p.Val968=
ENST00000635986.2:c.*373A>T	ENSP00000490653.2:n.*373A>T
ENST00000636774.1:c.*1870A>T	ENSP00000489799.1:n.*1870A>T
ENST00000637238.1:c.2112A>T	ENSP00000490756.1:n.2112A>T
ENST00000637264.1:c.2375A>T
ENST00000666746.1:c.2880A>T
ENST00000672071.1:n.3501A>T
ENST00000672695.1:n.480A>T
ENST00000672923.2:n.3303A>T
ENST00000268124.9:c.3303A>T	ENSP00000268124.5:p.Val1101=
ENST00000442287.6:c.3303A>T	ENSP00000399851.2:p.Val1101=
ENST00000530292.2:c.387A>T	ENSP00000432885.1:p.Val129=
ENST00000631044.2:c.*2727A>T	ENSP00000486730.1:n.*2727A>T
NM_001126131.1:c.3303A>T	NP_001119603.1:p.Val1101=
NM_002693.2:c.3303A>T	NP_002684.1:p.Val1101=
NM_001126131.2:c.3303A>T	NP_001119603.1:p.Val1101=
NM_002693.3:c.3303A>T MANE Select	NP_002684.1:p.Val1101=