Canonical Allele Identifier: CA395954863

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385415G>T (hg19) ; chr16:g.56351503G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351503G>T , CM000678.2:g.56351503G>T	GRCh38
NC_000016.9:g.56385415G>T , CM000678.1:g.56385415G>T	GRCh37
NC_000016.8:g.54942916G>T	NCBI36
NG_042800.1:g.165165G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.843G>T MANE Select	ENSP00000262493.6:p.Lys281Asn
ENST00000562316.6:c.510G>T	ENSP00000457238.2:p.Lys170Asn
ENST00000564727.2:c.147G>T	ENSP00000454971.2:p.Lys49Asn
ENST00000568375.2:c.116-3363G>T
ENST00000638185.1:n.1058G>T
ENST00000638210.1:n.1143G>T
ENST00000638705.1:c.843G>T	ENSP00000491223.1:p.Lys281Asn
ENST00000638836.1:n.753G>T
ENST00000639055.1:n.1564G>T
ENST00000639251.1:n.744G>T
ENST00000639268.1:c.478G>T
ENST00000639341.1:c.368G>T
ENST00000639770.1:c.881G>T	ENSP00000491999.1:n.881G>T
ENST00000640390.1:n.773G>T
ENST00000640469.1:c.207G>T	ENSP00000491875.1:p.Lys69Asn
ENST00000640560.1:n.619G>T
ENST00000640893.1:c.*241G>T	ENSP00000492677.1:n.*241G>T
ENST00000262493.10:c.843G>T	ENSP00000262493.6:p.Lys281Asn
ENST00000564727.1:c.63G>T	ENSP00000454971.1:p.Lys21Asn
ENST00000568375.1:n.116-3363G>T
NM_020988.2:c.843G>T	NP_066268.1:p.Lys281Asn
XM_011523003.1:c.717G>T	XP_011521305.1:p.Lys239Asn
XM_011523003.3:c.717G>T	XP_011521305.1:p.Lys239Asn
NM_020988.3:c.843G>T MANE Select	NP_066268.1:p.Lys281Asn