Canonical Allele Identifier: CA393759186

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89868759A>G (hg19) ; chr15:g.89325528A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325528A>G , CM000677.2:g.89325528A>G	GRCh38
NC_000015.9:g.89868759A>G , CM000677.1:g.89868759A>G	GRCh37
NC_000015.8:g.87669763A>G	NCBI36
NG_008218.1:g.14268T>C
NG_008218.2:g.14268T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1871T>C	ENSP00000516154.1:p.Val624Ala
ENST00000268124.11:c.1871T>C MANE Select	ENSP00000268124.5:p.Val624Ala
ENST00000530292.3:c.1472T>C	ENSP00000432885.2:p.Val491Ala
ENST00000635986.2:c.1871T>C	ENSP00000490653.2:p.Val624Ala
ENST00000636774.1:c.*438T>C	ENSP00000489799.1:n.*438T>C
ENST00000637238.1:c.608T>C	ENSP00000490756.1:p.Val203Ala
ENST00000637264.1:c.943T>C
ENST00000666746.1:c.1448T>C
ENST00000670281.1:c.191T>C	ENSP00000499709.1:p.Val64Ala
ENST00000672071.1:n.2069T>C
ENST00000672923.2:n.1974T>C
ENST00000268124.9:c.1871T>C	ENSP00000268124.5:p.Val624Ala
ENST00000442287.6:c.1871T>C	ENSP00000399851.2:p.Val624Ala
ENST00000526314.2:c.253T>C
ENST00000526398.1:c.60T>C
ENST00000532584.5:n.73T>C
ENST00000631044.2:c.*1254T>C	ENSP00000486730.1:n.*1254T>C
NM_001126131.1:c.1871T>C	NP_001119603.1:p.Val624Ala
NM_002693.2:c.1871T>C	NP_002684.1:p.Val624Ala
NM_001126131.2:c.1871T>C	NP_001119603.1:p.Val624Ala
NM_002693.3:c.1871T>C MANE Select	NP_002684.1:p.Val624Ala