Canonical Allele Identifier: CA395952268

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370701G>T (hg19) ; chr16:g.56336789G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336789G>T , CM000678.2:g.56336789G>T	GRCh38
NC_000016.9:g.56370701G>T , CM000678.1:g.56370701G>T	GRCh37
NC_000016.8:g.54928202G>T	NCBI36
NG_042800.1:g.150451G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.652G>T	ENSP00000262494.7:p.Asp218Tyr
ENST00000262493.12:c.652G>T MANE Select	ENSP00000262493.6:p.Asp218Tyr
ENST00000262494.12:c.652G>T	ENSP00000262494.7:p.Asp218Tyr
ENST00000562316.6:c.319G>T	ENSP00000457238.2:p.Asp107Tyr
ENST00000568375.2:c.44G>T
ENST00000638185.1:n.867G>T
ENST00000638210.1:n.952G>T
ENST00000638705.1:c.652G>T	ENSP00000491223.1:p.Asp218Tyr
ENST00000638836.1:n.562G>T
ENST00000639055.1:n.1373G>T
ENST00000639251.1:n.553G>T
ENST00000639268.1:c.287G>T
ENST00000639341.1:c.177G>T
ENST00000639770.1:c.690G>T	ENSP00000491999.1:n.690G>T
ENST00000640390.1:n.582G>T
ENST00000640469.1:c.16G>T	ENSP00000491875.1:p.Asp6Tyr
ENST00000640560.1:n.428G>T
ENST00000640893.1:c.*50G>T	ENSP00000492677.1:n.*50G>T
ENST00000262493.10:c.652G>T	ENSP00000262493.6:p.Asp218Tyr
ENST00000262494.11:c.652G>T	ENSP00000262494.7:p.Asp218Tyr
ENST00000568375.1:n.44G>T
NM_020988.2:c.652G>T	NP_066268.1:p.Asp218Tyr
NM_138736.2:c.652G>T	NP_620073.2:p.Asp218Tyr
XM_011523003.1:c.526G>T	XP_011521305.1:p.Asp176Tyr
XM_011523003.3:c.526G>T	XP_011521305.1:p.Asp176Tyr
NM_020988.3:c.652G>T MANE Select	NP_066268.1:p.Asp218Tyr
NM_138736.3:c.652G>T	NP_620073.2:p.Asp218Tyr