Canonical Allele Identifier: CA492069243

Gene: POLG FANCI

Linked Data

• MyVariant Identifiers: chr15:g.89859639A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316408A>G , CM000677.2:g.89316408A>G	GRCh38
NC_000015.9:g.89859639A>G , CM000677.1:g.89859639A>G	GRCh37
NC_000015.8:g.87660643A>G	NCBI36
NG_008218.1:g.23388T>C
NG_011736.1:g.77446A>G , LRG_500:g.77446A>G
NG_008218.2:g.23388T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.*343T>C (POLG)	ENSP00000516154.1:n.*343T>C
ENST00000696717.1:c.3657A>G (FANCI)	ENSP00000512830.1:p.Ser1219=
ENST00000696718.1:c.3399A>G (FANCI)	ENSP00000512831.1:p.Ser1133=
ENST00000696719.1:c.3936A>G (FANCI)	ENSP00000512832.1:p.Ser1312=
ENST00000696721.1:n.5521A>G (FANCI)
ENST00000268124.11:c.*343T>C (POLG) MANE Select	ENSP00000268124.5:n.*343T>C
ENST00000310775.12:c.3936A>G (FANCI) MANE Select	ENSP00000310842.8:p.Ser1312=
ENST00000530292.3:c.3763T>C (POLG)	ENSP00000432885.2:n.3763T>C
ENST00000635831.1:c.73+298T>C (POLG)
ENST00000635986.2:c.*1133T>C (POLG)	ENSP00000490653.2:n.*1133T>C
ENST00000637238.1:c.2971T>C (POLG)	ENSP00000490756.1:n.2971T>C
ENST00000637264.1:c.3075T>C (POLG)
ENST00000666746.1:c.3640T>C (POLG)
ENST00000672071.1:n.5265T>C (POLG)
ENST00000672695.1:n.1842T>C (POLG)
ENST00000672923.2:n.4063T>C (POLG)
ENST00000674831.1:c.4068A>G (FANCI)	ENSP00000502474.1:p.Ser1356=
ENST00000675352.1:n.3141A>G (FANCI)
ENST00000676003.1:c.3894A>G (FANCI)	ENSP00000502254.1:p.Ser1298=
ENST00000676110.1:n.3517A>G (FANCI)
ENST00000268124.9:c.*343T>C (POLG)	ENSP00000268124.5:n.*343T>C
ENST00000300027.12:c.3756A>G (FANCI)	ENSP00000300027.8:p.Ser1252=
ENST00000310775.11:c.3936A>G (FANCI)	ENSP00000310842.7:p.Ser1312=
ENST00000442287.6:c.*343T>C (POLG)	ENSP00000399851.2:n.*343T>C
ENST00000447611.6:c.*280A>G (FANCI)	ENSP00000413249.2:n.*280A>G
ENST00000530292.2:c.1246T>C (POLG)	ENSP00000432885.1:n.1246T>C
ENST00000561894.1:c.3232A>G (FANCI)
ENST00000566615.1:n.519A>G (FANCI)
ENST00000566895.5:n.3943A>G (FANCI)
ENST00000631044.2:c.*3487T>C (POLG)	ENSP00000486730.1:n.*3487T>C
NM_001113378.1:c.3936A>G , LRG_500t1:c.3936A>G (FANCI)	NP_001106849.1:p.Ser1312=
NM_001126131.1:c.*343T>C (POLG)	NP_001119603.1:n.*343T>C
NM_002693.2:c.*343T>C (POLG)	NP_002684.1:n.*343T>C
NM_018193.2:c.3756A>G (FANCI)	NP_060663.2:p.Ser1252=
XM_011521756.1:c.3936A>G (FANCI)	XP_011520058.1:p.Ser1312=
XM_011521757.1:c.3936A>G (FANCI)	XP_011520059.1:p.Ser1312=
XM_011521758.1:c.3936A>G (FANCI)	XP_011520060.1:p.Ser1312=
XM_011521759.1:c.3936A>G (FANCI)	XP_011520061.1:p.Ser1312=
XM_011521760.1:c.3936A>G (FANCI)	XP_011520062.1:p.Ser1312=
XM_011521761.1:c.3936A>G (FANCI)	XP_011520063.1:p.Ser1312=
XM_011521762.1:c.3936A>G (FANCI)	XP_011520064.1:p.Ser1312=
XM_011521763.1:c.3894A>G (FANCI)	XP_011520065.1:p.Ser1298=
XM_011521764.1:c.3756A>G (FANCI)	XP_011520066.1:p.Ser1252=
XM_011521765.1:c.3657A>G (FANCI)	XP_011520067.1:p.Ser1219=
XM_011521766.1:c.3657A>G (FANCI)	XP_011520068.1:p.Ser1219=
XM_011521767.1:c.3657A>G (FANCI)	XP_011520069.1:p.Ser1219=
XM_011521769.1:c.3591A>G (FANCI)	XP_011520071.1:p.Ser1197=
XM_011521756.2:c.3936A>G (FANCI)	XP_011520058.1:p.Ser1312=
XM_011521757.2:c.3936A>G (FANCI)	XP_011520059.1:p.Ser1312=
XM_011521764.2:c.3756A>G (FANCI)	XP_011520066.1:p.Ser1252=
XM_011521767.2:c.3657A>G (FANCI)	XP_011520069.1:p.Ser1219=
NM_001113378.2:c.3936A>G (FANCI) MANE Select	NP_001106849.1:p.Ser1312=
NM_001126131.2:c.*343T>C (POLG)	NP_001119603.1:n.*343T>C
NM_001376910.1:c.3657A>G (FANCI)	NP_001363839.1:p.Ser1219=
NM_001376911.1:c.3936A>G (FANCI)	NP_001363840.1:p.Ser1312=
NM_018193.3:c.3756A>G (FANCI)	NP_060663.2:p.Ser1252=
NM_002693.3:c.*343T>C (POLG) MANE Select	NP_002684.1:n.*343T>C