Canonical Allele Identifier: CA395955044

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388819C>T (hg19) ; chr16:g.56354907C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354907C>T , CM000678.2:g.56354907C>T	GRCh38
NC_000016.9:g.56388819C>T , CM000678.1:g.56388819C>T	GRCh37
NC_000016.8:g.54946320C>T	NCBI36
NG_042800.1:g.168569C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.919C>T MANE Select	ENSP00000262493.6:p.Gln307Ter
ENST00000562316.6:c.545-1196C>T	ENSP00000457238.2:n.545-1196C>T
ENST00000564727.2:c.223C>T	ENSP00000454971.2:p.Gln75Ter
ENST00000568375.2:c.157C>T
ENST00000638185.1:n.1134C>T
ENST00000638210.1:n.1219C>T
ENST00000638705.1:c.919C>T	ENSP00000491223.1:p.Gln307Ter
ENST00000638836.1:n.829C>T
ENST00000639055.1:n.1640C>T
ENST00000639251.1:n.820C>T
ENST00000639268.1:c.554C>T
ENST00000639341.1:c.444C>T
ENST00000639770.1:c.957C>T	ENSP00000491999.1:n.957C>T
ENST00000640390.1:n.849C>T
ENST00000640469.1:c.283C>T	ENSP00000491875.1:p.Gln95Ter
ENST00000640560.1:n.695C>T
ENST00000640893.1:c.*317C>T	ENSP00000492677.1:n.*317C>T
ENST00000262493.10:c.919C>T	ENSP00000262493.6:p.Gln307Ter
ENST00000564727.1:c.139C>T	ENSP00000454971.1:p.Gln47Ter
ENST00000568375.1:n.157C>T
NM_020988.2:c.919C>T	NP_066268.1:p.Gln307Ter
XM_011523003.1:c.793C>T	XP_011521305.1:p.Gln265Ter
XM_011523003.3:c.793C>T	XP_011521305.1:p.Gln265Ter
NM_020988.3:c.919C>T MANE Select	NP_066268.1:p.Gln307Ter