Canonical Allele Identifier: CA395954776

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385380A>T (hg19) ; chr16:g.56351468A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351468A>T , CM000678.2:g.56351468A>T	GRCh38
NC_000016.9:g.56385380A>T , CM000678.1:g.56385380A>T	GRCh37
NC_000016.8:g.54942881A>T	NCBI36
NG_042800.1:g.165130A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.808A>T MANE Select	ENSP00000262493.6:p.Asn270Tyr
ENST00000562316.6:c.475A>T	ENSP00000457238.2:p.Asn159Tyr
ENST00000564727.2:c.112A>T	ENSP00000454971.2:p.Asn38Tyr
ENST00000568375.2:c.116-3398A>T
ENST00000638185.1:n.1023A>T
ENST00000638210.1:n.1108A>T
ENST00000638705.1:c.808A>T	ENSP00000491223.1:p.Asn270Tyr
ENST00000638836.1:n.718A>T
ENST00000639055.1:n.1529A>T
ENST00000639251.1:n.709A>T
ENST00000639268.1:c.443A>T
ENST00000639341.1:c.333A>T
ENST00000639770.1:c.846A>T	ENSP00000491999.1:n.846A>T
ENST00000640390.1:n.738A>T
ENST00000640469.1:c.172A>T	ENSP00000491875.1:p.Asn58Tyr
ENST00000640560.1:n.584A>T
ENST00000640893.1:c.*206A>T	ENSP00000492677.1:n.*206A>T
ENST00000262493.10:c.808A>T	ENSP00000262493.6:p.Asn270Tyr
ENST00000564727.1:c.28A>T	ENSP00000454971.1:p.Asn10Tyr
ENST00000568375.1:n.116-3398A>T
NM_020988.2:c.808A>T	NP_066268.1:p.Asn270Tyr
XM_011523003.1:c.682A>T	XP_011521305.1:p.Asn228Tyr
XM_011523003.3:c.682A>T	XP_011521305.1:p.Asn228Tyr
NM_020988.3:c.808A>T MANE Select	NP_066268.1:p.Asn270Tyr