Canonical Allele Identifier: CA7724202

Gene: POLG

Linked Data

• ClinVar Variation Id: 381888
• ClinVar RCV Id: RCV000423253
• dbSNP Id: rs749440761
• ExAC: 15:89862201 G / A
• gnomAD v2: 15-89862201-G-A
• gnomAD v4: 15-89318970-G-A
• MyVariant Identifiers: chr15:g.89862201G>A (hg19) ; chr15:g.89318970G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318970G>A , CM000677.2:g.89318970G>A	GRCh38
NC_000015.9:g.89862201G>A , CM000677.1:g.89862201G>A	GRCh37
NC_000015.8:g.87663205G>A	NCBI36
NG_008218.1:g.20826C>T
NG_011736.1:g.80008G>A , LRG_500:g.80008G>A
NG_008218.2:g.20826C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3234C>T	ENSP00000516154.1:p.Cys1078=
ENST00000268124.11:c.3234C>T MANE Select	ENSP00000268124.5:p.Cys1078=
ENST00000530292.3:c.2835C>T	ENSP00000432885.2:p.Cys945=
ENST00000635986.2:c.*304C>T	ENSP00000490653.2:n.*304C>T
ENST00000636774.1:c.*1801C>T	ENSP00000489799.1:n.*1801C>T
ENST00000637238.1:c.2043C>T	ENSP00000490756.1:n.2043C>T
ENST00000637264.1:c.2306C>T
ENST00000666746.1:c.2811C>T
ENST00000672071.1:n.3432C>T
ENST00000672695.1:n.411C>T
ENST00000672923.2:n.3234C>T
ENST00000268124.9:c.3234C>T	ENSP00000268124.5:p.Cys1078=
ENST00000442287.6:c.3234C>T	ENSP00000399851.2:p.Cys1078=
ENST00000530292.2:c.318C>T	ENSP00000432885.1:p.Cys106=
ENST00000631044.2:c.*2658C>T	ENSP00000486730.1:n.*2658C>T
NM_001126131.1:c.3234C>T	NP_001119603.1:p.Cys1078=
NM_002693.2:c.3234C>T	NP_002684.1:p.Cys1078=
NM_001126131.2:c.3234C>T	NP_001119603.1:p.Cys1078=
NM_002693.3:c.3234C>T MANE Select	NP_002684.1:p.Cys1078=