Canonical Allele Identifier: CA232559

Gene: POLG

Linked Data

• ClinVar Variation Id: 138753
• ClinVar RCV Id: RCV000186650 ; RCV000471041 ; RCV000712796 ; RCV001847751 ; RCV001116417 ; RCV002316396
• dbSNP Id: rs41546712
• ExAC: 15:89864125 G / A
• gnomAD v2: 15-89864125-G-A
• gnomAD v3: 15-89320894-G-A
• gnomAD v4: 15-89320894-G-A
• MyVariant Identifiers: chr15:g.89864125G>A (hg19) ; chr15:g.89320894G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320894G>A , CM000677.2:g.89320894G>A	GRCh38
NC_000015.9:g.89864125G>A , CM000677.1:g.89864125G>A	GRCh37
NC_000015.8:g.87665129G>A	NCBI36
NG_008218.1:g.18902C>T
NG_008218.2:g.18902C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2853C>T	ENSP00000516154.1:p.Tyr951=
ENST00000268124.11:c.2853C>T MANE Select	ENSP00000268124.5:p.Tyr951=
ENST00000530292.3:c.2454C>T	ENSP00000432885.2:p.Tyr818=
ENST00000635986.2:c.2853C>T	ENSP00000490653.2:p.Tyr951=
ENST00000636774.1:c.*1420C>T	ENSP00000489799.1:n.*1420C>T
ENST00000637238.1:c.1662C>T	ENSP00000490756.1:n.1662C>T
ENST00000637264.1:c.1925C>T
ENST00000666746.1:c.2430C>T
ENST00000670281.1:c.800+1068C>T	ENSP00000499709.1:n.800+1068C>T
ENST00000672071.1:n.3051C>T
ENST00000672695.1:n.30C>T
ENST00000672923.2:n.2795C>T
ENST00000268124.9:c.2853C>T	ENSP00000268124.5:p.Tyr951=
ENST00000442287.6:c.2853C>T	ENSP00000399851.2:p.Tyr951=
ENST00000528881.2:c.450C>T
ENST00000530715.5:c.186-25C>T	ENSP00000431395.1:n.186-25C>T
ENST00000631044.2:c.*2277C>T	ENSP00000486730.1:n.*2277C>T
NM_001126131.1:c.2853C>T	NP_001119603.1:p.Tyr951=
NM_002693.2:c.2853C>T	NP_002684.1:p.Tyr951=
NM_001126131.2:c.2853C>T	NP_001119603.1:p.Tyr951=
NM_002693.3:c.2853C>T MANE Select	NP_002684.1:p.Tyr951=