Canonical Allele Identifier: CA492071425

Gene: POLG

Linked Data

• dbSNP Id: rs1383744808
• gnomAD v2: 15-89861780-G-A
• gnomAD v4: 15-89318549-G-A
• MyVariant Identifiers: chr15:g.89861780G>A (hg19) ; chr15:g.89318549G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318549G>A , CM000677.2:g.89318549G>A	GRCh38
NC_000015.9:g.89861780G>A , CM000677.1:g.89861780G>A	GRCh37
NC_000015.8:g.87662784G>A	NCBI36
NG_008218.1:g.21247C>T
NG_011736.1:g.79587G>A , LRG_500:g.79587G>A
NG_008218.2:g.21247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3474C>T	ENSP00000516154.1:p.Leu1158=
ENST00000268124.11:c.3474C>T MANE Select	ENSP00000268124.5:p.Leu1158=
ENST00000530292.3:c.3075C>T	ENSP00000432885.2:p.Leu1025=
ENST00000635986.2:c.*544C>T	ENSP00000490653.2:n.*544C>T
ENST00000636774.1:c.*2041C>T	ENSP00000489799.1:n.*2041C>T
ENST00000637238.1:c.2283C>T	ENSP00000490756.1:n.2283C>T
ENST00000637264.1:c.2546C>T
ENST00000666746.1:c.3051C>T
ENST00000672071.1:n.3672C>T
ENST00000672695.1:n.651C>T
ENST00000672923.2:n.3474C>T
ENST00000268124.9:c.3474C>T	ENSP00000268124.5:p.Leu1158=
ENST00000442287.6:c.3474C>T	ENSP00000399851.2:p.Leu1158=
ENST00000530292.2:c.558C>T	ENSP00000432885.1:p.Leu186=
ENST00000631044.2:c.*2898C>T	ENSP00000486730.1:n.*2898C>T
NM_001126131.1:c.3474C>T	NP_001119603.1:p.Leu1158=
NM_002693.2:c.3474C>T	NP_002684.1:p.Leu1158=
NM_001126131.2:c.3474C>T	NP_001119603.1:p.Leu1158=
NM_002693.3:c.3474C>T MANE Select	NP_002684.1:p.Leu1158=