Canonical Allele Identifier: CA492071479

Gene: POLG

Linked Data

• dbSNP Id: rs1596349878
• gnomAD v4: 15-89318582-G-A
• MyVariant Identifiers: chr15:g.89861813G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318582G>A , CM000677.2:g.89318582G>A	GRCh38
NC_000015.9:g.89861813G>A , CM000677.1:g.89861813G>A	GRCh37
NC_000015.8:g.87662817G>A	NCBI36
NG_008218.1:g.21214C>T
NG_011736.1:g.79620G>A , LRG_500:g.79620G>A
NG_008218.2:g.21214C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3441C>T	ENSP00000516154.1:p.Tyr1147=
ENST00000268124.11:c.3441C>T MANE Select	ENSP00000268124.5:p.Tyr1147=
ENST00000530292.3:c.3042C>T	ENSP00000432885.2:p.Tyr1014=
ENST00000635986.2:c.*511C>T	ENSP00000490653.2:n.*511C>T
ENST00000636774.1:c.*2008C>T	ENSP00000489799.1:n.*2008C>T
ENST00000637238.1:c.2250C>T	ENSP00000490756.1:n.2250C>T
ENST00000637264.1:c.2513C>T
ENST00000666746.1:c.3018C>T
ENST00000672071.1:n.3639C>T
ENST00000672695.1:n.618C>T
ENST00000672923.2:n.3441C>T
ENST00000268124.9:c.3441C>T	ENSP00000268124.5:p.Tyr1147=
ENST00000442287.6:c.3441C>T	ENSP00000399851.2:p.Tyr1147=
ENST00000530292.2:c.525C>T	ENSP00000432885.1:p.Tyr175=
ENST00000631044.2:c.*2865C>T	ENSP00000486730.1:n.*2865C>T
NM_001126131.1:c.3441C>T	NP_001119603.1:p.Tyr1147=
NM_002693.2:c.3441C>T	NP_002684.1:p.Tyr1147=
NM_001126131.2:c.3441C>T	NP_001119603.1:p.Tyr1147=
NM_002693.3:c.3441C>T MANE Select	NP_002684.1:p.Tyr1147=