Canonical Allele Identifier: CA395954755

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385371C>G (hg19) ; chr16:g.56351459C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351459C>G , CM000678.2:g.56351459C>G	GRCh38
NC_000016.9:g.56385371C>G , CM000678.1:g.56385371C>G	GRCh37
NC_000016.8:g.54942872C>G	NCBI36
NG_042800.1:g.165121C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.799C>G MANE Select	ENSP00000262493.6:p.Leu267Val
ENST00000562316.6:c.466C>G	ENSP00000457238.2:p.Leu156Val
ENST00000564727.2:c.103C>G	ENSP00000454971.2:p.Leu35Val
ENST00000568375.2:c.116-3407C>G
ENST00000638185.1:n.1014C>G
ENST00000638210.1:n.1099C>G
ENST00000638705.1:c.799C>G	ENSP00000491223.1:p.Leu267Val
ENST00000638836.1:n.709C>G
ENST00000639055.1:n.1520C>G
ENST00000639251.1:n.700C>G
ENST00000639268.1:c.434C>G
ENST00000639341.1:c.324C>G
ENST00000639770.1:c.837C>G	ENSP00000491999.1:n.837C>G
ENST00000640390.1:n.729C>G
ENST00000640469.1:c.163C>G	ENSP00000491875.1:p.Leu55Val
ENST00000640560.1:n.575C>G
ENST00000640893.1:c.*197C>G	ENSP00000492677.1:n.*197C>G
ENST00000262493.10:c.799C>G	ENSP00000262493.6:p.Leu267Val
ENST00000564727.1:c.19C>G	ENSP00000454971.1:p.Leu7Val
ENST00000568375.1:n.116-3407C>G
NM_020988.2:c.799C>G	NP_066268.1:p.Leu267Val
XM_011523003.1:c.673C>G	XP_011521305.1:p.Leu225Val
XM_011523003.3:c.673C>G	XP_011521305.1:p.Leu225Val
NM_020988.3:c.799C>G MANE Select	NP_066268.1:p.Leu267Val