Canonical Allele Identifier: CA7724421

Gene: POLG

Linked Data

• ClinVar Variation Id: 696224
• ClinVar RCV Id: RCV000862449 ; RCV001441621 ; RCV003985826
• dbSNP Id: rs372456693
• ExAC: 15:89864982 G / A
• gnomAD v2: 15-89864982-G-A
• gnomAD v3: 15-89321751-G-A
• gnomAD v4: 15-89321751-G-A
• COSMIC: COSM3969335
• MyVariant Identifiers: chr15:g.89864982G>A (hg19) ; chr15:g.89321751G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321751G>A , CM000677.2:g.89321751G>A	GRCh38
NC_000015.9:g.89864982G>A , CM000677.1:g.89864982G>A	GRCh37
NC_000015.8:g.87665986G>A	NCBI36
NG_008218.1:g.18045C>T
NG_008218.2:g.18045C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2583C>T	ENSP00000516154.1:p.Thr861=
ENST00000268124.11:c.2583C>T MANE Select	ENSP00000268124.5:p.Thr861=
ENST00000530292.3:c.2184C>T	ENSP00000432885.2:p.Thr728=
ENST00000635986.2:c.2583C>T	ENSP00000490653.2:p.Thr861=
ENST00000636774.1:c.*1150C>T	ENSP00000489799.1:n.*1150C>T
ENST00000637238.1:c.1280C>T	ENSP00000490756.1:n.1280C>T
ENST00000637264.1:c.1655C>T
ENST00000666746.1:c.2160C>T
ENST00000670281.1:c.800+211C>T	ENSP00000499709.1:n.800+211C>T
ENST00000672071.1:n.2781C>T
ENST00000672923.2:n.2525C>T
ENST00000268124.9:c.2583C>T	ENSP00000268124.5:p.Thr861=
ENST00000442287.6:c.2583C>T	ENSP00000399851.2:p.Thr861=
ENST00000528881.2:c.196-491C>T
ENST00000530715.5:c.186-882C>T	ENSP00000431395.1:n.186-882C>T
ENST00000631044.2:c.*2007C>T	ENSP00000486730.1:n.*2007C>T
NM_001126131.1:c.2583C>T	NP_001119603.1:p.Thr861=
NM_002693.2:c.2583C>T	NP_002684.1:p.Thr861=
NM_001126131.2:c.2583C>T	NP_001119603.1:p.Thr861=
NM_002693.3:c.2583C>T MANE Select	NP_002684.1:p.Thr861=