Canonical Allele Identifier: CA395951443

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368676A>C (hg19) ; chr16:g.56334764A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334764A>C , CM000678.2:g.56334764A>C	GRCh38
NC_000016.9:g.56368676A>C , CM000678.1:g.56368676A>C	GRCh37
NC_000016.8:g.54926177A>C	NCBI36
NG_042800.1:g.148426A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.500A>C	ENSP00000262494.7:p.Asp167Ala
ENST00000262493.12:c.500A>C MANE Select	ENSP00000262493.6:p.Asp167Ala
ENST00000262494.12:c.500A>C	ENSP00000262494.7:p.Asp167Ala
ENST00000562316.6:c.167A>C	ENSP00000457238.2:p.Asp56Ala
ENST00000638185.1:n.715A>C
ENST00000638210.1:n.800A>C
ENST00000638705.1:c.500A>C	ENSP00000491223.1:p.Asp167Ala
ENST00000638836.1:n.410A>C
ENST00000639055.1:n.1221A>C
ENST00000639251.1:n.401A>C
ENST00000639268.1:c.229-1967A>C
ENST00000639341.1:c.25A>C
ENST00000639770.1:c.538A>C	ENSP00000491999.1:n.538A>C
ENST00000640390.1:n.430A>C
ENST00000640893.1:c.339A>C	ENSP00000492677.1:p.Arg113=
ENST00000262493.10:c.500A>C	ENSP00000262493.6:p.Asp167Ala
ENST00000262494.11:c.500A>C	ENSP00000262494.7:p.Asp167Ala
ENST00000562316.5:c.239A>C	ENSP00000457238.1:p.Asp80Ala
ENST00000563440.1:c.239A>C	ENSP00000455774.1:p.Asp80Ala
ENST00000565363.5:c.374A>C	ENSP00000454728.1:p.Asp125Ala
NM_020988.2:c.500A>C	NP_066268.1:p.Asp167Ala
NM_138736.2:c.500A>C	NP_620073.2:p.Asp167Ala
XM_011523003.1:c.374A>C	XP_011521305.1:p.Asp125Ala
XM_011523003.3:c.374A>C	XP_011521305.1:p.Asp125Ala
NM_020988.3:c.500A>C MANE Select	NP_066268.1:p.Asp167Ala
NM_138736.3:c.500A>C	NP_620073.2:p.Asp167Ala