Canonical Allele Identifier: CA395954869

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385417C>A (hg19) ; chr16:g.56351505C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351505C>A , CM000678.2:g.56351505C>A	GRCh38
NC_000016.9:g.56385417C>A , CM000678.1:g.56385417C>A	GRCh37
NC_000016.8:g.54942918C>A	NCBI36
NG_042800.1:g.165167C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.845C>A MANE Select	ENSP00000262493.6:p.Ser282Ter
ENST00000562316.6:c.512C>A	ENSP00000457238.2:p.Ser171Ter
ENST00000564727.2:c.149C>A	ENSP00000454971.2:p.Ser50Ter
ENST00000568375.2:c.116-3361C>A
ENST00000638185.1:n.1060C>A
ENST00000638210.1:n.1145C>A
ENST00000638705.1:c.845C>A	ENSP00000491223.1:p.Ser282Ter
ENST00000638836.1:n.755C>A
ENST00000639055.1:n.1566C>A
ENST00000639251.1:n.746C>A
ENST00000639268.1:c.480C>A
ENST00000639341.1:c.370C>A
ENST00000639770.1:c.883C>A	ENSP00000491999.1:n.883C>A
ENST00000640390.1:n.775C>A
ENST00000640469.1:c.209C>A	ENSP00000491875.1:p.Ser70Ter
ENST00000640560.1:n.621C>A
ENST00000640893.1:c.*243C>A	ENSP00000492677.1:n.*243C>A
ENST00000262493.10:c.845C>A	ENSP00000262493.6:p.Ser282Ter
ENST00000564727.1:c.65C>A	ENSP00000454971.1:p.Ser22Ter
ENST00000568375.1:n.116-3361C>A
NM_020988.2:c.845C>A	NP_066268.1:p.Ser282Ter
XM_011523003.1:c.719C>A	XP_011521305.1:p.Ser240Ter
XM_011523003.3:c.719C>A	XP_011521305.1:p.Ser240Ter
NM_020988.3:c.845C>A MANE Select	NP_066268.1:p.Ser282Ter