Canonical Allele Identifier: CA395954754

Gene: GNAO1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.799C>A MANE Select	ENSP00000262493.6:p.Leu267Ile
ENST00000562316.6:c.466C>A	ENSP00000457238.2:p.Leu156Ile
ENST00000564727.2:c.103C>A	ENSP00000454971.2:p.Leu35Ile
ENST00000568375.2:c.116-3407C>A
ENST00000638185.1:n.1014C>A
ENST00000638210.1:n.1099C>A
ENST00000638705.1:c.799C>A	ENSP00000491223.1:p.Leu267Ile
ENST00000638836.1:n.709C>A
ENST00000639055.1:n.1520C>A
ENST00000639251.1:n.700C>A
ENST00000639268.1:c.434C>A
ENST00000639341.1:c.324C>A
ENST00000639770.1:c.837C>A	ENSP00000491999.1:n.837C>A
ENST00000640390.1:n.729C>A
ENST00000640469.1:c.163C>A	ENSP00000491875.1:p.Leu55Ile
ENST00000640560.1:n.575C>A
ENST00000640893.1:c.*197C>A	ENSP00000492677.1:n.*197C>A
ENST00000262493.10:c.799C>A	ENSP00000262493.6:p.Leu267Ile
ENST00000564727.1:c.19C>A	ENSP00000454971.1:p.Leu7Ile
ENST00000568375.1:n.116-3407C>A
NM_020988.2:c.799C>A	NP_066268.1:p.Leu267Ile
XM_011523003.1:c.673C>A	XP_011521305.1:p.Leu225Ile
XM_011523003.3:c.673C>A	XP_011521305.1:p.Leu225Ile
NM_020988.3:c.799C>A MANE Select	NP_066268.1:p.Leu267Ile