Canonical Allele Identifier: CA395952150

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370651A>C (hg19) ; chr16:g.56336739A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336739A>C , CM000678.2:g.56336739A>C	GRCh38
NC_000016.9:g.56370651A>C , CM000678.1:g.56370651A>C	GRCh37
NC_000016.8:g.54928152A>C	NCBI36
NG_042800.1:g.150401A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.602A>C	ENSP00000262494.7:p.Asp201Ala
ENST00000262493.12:c.602A>C MANE Select	ENSP00000262493.6:p.Asp201Ala
ENST00000262494.12:c.602A>C	ENSP00000262494.7:p.Asp201Ala
ENST00000562316.6:c.269A>C	ENSP00000457238.2:p.Asp90Ala
ENST00000638185.1:n.817A>C
ENST00000638210.1:n.902A>C
ENST00000638705.1:c.602A>C	ENSP00000491223.1:p.Asp201Ala
ENST00000638836.1:n.512A>C
ENST00000639055.1:n.1323A>C
ENST00000639251.1:n.503A>C
ENST00000639268.1:c.237A>C
ENST00000639341.1:c.127A>C
ENST00000639770.1:c.640A>C	ENSP00000491999.1:n.640A>C
ENST00000640390.1:n.532A>C
ENST00000640560.1:n.378A>C
ENST00000640893.1:c.441A>C	ENSP00000492677.1:p.Ter147Cys
ENST00000262493.10:c.602A>C	ENSP00000262493.6:p.Asp201Ala
ENST00000262494.11:c.602A>C	ENSP00000262494.7:p.Asp201Ala
NM_020988.2:c.602A>C	NP_066268.1:p.Asp201Ala
NM_138736.2:c.602A>C	NP_620073.2:p.Asp201Ala
XM_011523003.1:c.476A>C	XP_011521305.1:p.Asp159Ala
XM_011523003.3:c.476A>C	XP_011521305.1:p.Asp159Ala
NM_020988.3:c.602A>C MANE Select	NP_066268.1:p.Asp201Ala
NM_138736.3:c.602A>C	NP_620073.2:p.Asp201Ala