Canonical Allele Identifier: CA395952208

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370679G>T (hg19) ; chr16:g.56336767G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336767G>T , CM000678.2:g.56336767G>T	GRCh38
NC_000016.9:g.56370679G>T , CM000678.1:g.56370679G>T	GRCh37
NC_000016.8:g.54928180G>T	NCBI36
NG_042800.1:g.150429G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.630G>T	ENSP00000262494.7:p.Lys210Asn
ENST00000262493.12:c.630G>T MANE Select	ENSP00000262493.6:p.Lys210Asn
ENST00000262494.12:c.630G>T	ENSP00000262494.7:p.Lys210Asn
ENST00000562316.6:c.297G>T	ENSP00000457238.2:p.Lys99Asn
ENST00000568375.2:c.22G>T
ENST00000638185.1:n.845G>T
ENST00000638210.1:n.930G>T
ENST00000638705.1:c.630G>T	ENSP00000491223.1:p.Lys210Asn
ENST00000638836.1:n.540G>T
ENST00000639055.1:n.1351G>T
ENST00000639251.1:n.531G>T
ENST00000639268.1:c.265G>T
ENST00000639341.1:c.155G>T
ENST00000639770.1:c.668G>T	ENSP00000491999.1:n.668G>T
ENST00000640390.1:n.560G>T
ENST00000640560.1:n.406G>T
ENST00000640893.1:c.*28G>T	ENSP00000492677.1:n.*28G>T
ENST00000262493.10:c.630G>T	ENSP00000262493.6:p.Lys210Asn
ENST00000262494.11:c.630G>T	ENSP00000262494.7:p.Lys210Asn
ENST00000568375.1:n.22G>T
NM_020988.2:c.630G>T	NP_066268.1:p.Lys210Asn
NM_138736.2:c.630G>T	NP_620073.2:p.Lys210Asn
XM_011523003.1:c.504G>T	XP_011521305.1:p.Lys168Asn
XM_011523003.3:c.504G>T	XP_011521305.1:p.Lys168Asn
NM_020988.3:c.630G>T MANE Select	NP_066268.1:p.Lys210Asn
NM_138736.3:c.630G>T	NP_620073.2:p.Lys210Asn