Canonical Allele Identifier: CA395955434

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388952G>T (hg19) ; chr16:g.56355040G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355040G>T , CM000678.2:g.56355040G>T	GRCh38
NC_000016.9:g.56388952G>T , CM000678.1:g.56388952G>T	GRCh37
NC_000016.8:g.54946453G>T	NCBI36
NG_042800.1:g.168702G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1052G>T MANE Select	ENSP00000262493.6:p.Cys351Phe
ENST00000562316.6:c.545-1063G>T	ENSP00000457238.2:n.545-1063G>T
ENST00000564727.2:c.303+53G>T	ENSP00000454971.2:n.303+53G>T
ENST00000568375.2:c.290G>T
ENST00000638210.1:n.1352G>T
ENST00000638705.1:c.1052G>T	ENSP00000491223.1:p.Cys351Phe
ENST00000638836.1:n.962G>T
ENST00000639251.1:n.953G>T
ENST00000639268.1:c.687G>T
ENST00000639341.1:c.577G>T
ENST00000639770.1:c.1090G>T	ENSP00000491999.1:n.1090G>T
ENST00000640390.1:n.982G>T
ENST00000640469.1:c.416G>T	ENSP00000491875.1:p.Cys139Phe
ENST00000640560.1:n.828G>T
ENST00000640893.1:c.*450G>T	ENSP00000492677.1:n.*450G>T
ENST00000262493.10:c.1052G>T	ENSP00000262493.6:p.Cys351Phe
ENST00000564727.1:c.272G>T	ENSP00000454971.1:p.Cys91Phe
ENST00000568375.1:n.290G>T
NM_020988.2:c.1052G>T	NP_066268.1:p.Cys351Phe
XM_011523003.1:c.926G>T	XP_011521305.1:p.Cys309Phe
XM_011523003.3:c.926G>T	XP_011521305.1:p.Cys309Phe
NM_020988.3:c.1052G>T MANE Select	NP_066268.1:p.Cys351Phe