Canonical Allele Identifier: CA395952361

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370744A>C (hg19) ; chr16:g.56336832A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336832A>C , CM000678.2:g.56336832A>C	GRCh38
NC_000016.9:g.56370744A>C , CM000678.1:g.56370744A>C	GRCh37
NC_000016.8:g.54928245A>C	NCBI36
NG_042800.1:g.150494A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.695A>C	ENSP00000262494.7:p.Asp232Ala
ENST00000262493.12:c.695A>C MANE Select	ENSP00000262493.6:p.Asp232Ala
ENST00000262494.12:c.695A>C	ENSP00000262494.7:p.Asp232Ala
ENST00000562316.6:c.362A>C	ENSP00000457238.2:p.Asp121Ala
ENST00000568375.2:c.87A>C
ENST00000638185.1:n.910A>C
ENST00000638210.1:n.995A>C
ENST00000638705.1:c.695A>C	ENSP00000491223.1:p.Asp232Ala
ENST00000638836.1:n.605A>C
ENST00000639055.1:n.1416A>C
ENST00000639251.1:n.596A>C
ENST00000639268.1:c.330A>C
ENST00000639341.1:c.220A>C
ENST00000639770.1:c.733A>C	ENSP00000491999.1:n.733A>C
ENST00000640390.1:n.625A>C
ENST00000640469.1:c.59A>C	ENSP00000491875.1:p.Asp20Ala
ENST00000640560.1:n.471A>C
ENST00000640893.1:c.*93A>C	ENSP00000492677.1:n.*93A>C
ENST00000262493.10:c.695A>C	ENSP00000262493.6:p.Asp232Ala
ENST00000262494.11:c.695A>C	ENSP00000262494.7:p.Asp232Ala
ENST00000568375.1:n.87A>C
NM_020988.2:c.695A>C	NP_066268.1:p.Asp232Ala
NM_138736.2:c.695A>C	NP_620073.2:p.Asp232Ala
XM_011523003.1:c.569A>C	XP_011521305.1:p.Asp190Ala
XM_011523003.3:c.569A>C	XP_011521305.1:p.Asp190Ala
NM_020988.3:c.695A>C MANE Select	NP_066268.1:p.Asp232Ala
NM_138736.3:c.695A>C	NP_620073.2:p.Asp232Ala