Canonical Allele Identifier: CA395952251

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370695T>C (hg19) ; chr16:g.56336783T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336783T>C , CM000678.2:g.56336783T>C	GRCh38
NC_000016.9:g.56370695T>C , CM000678.1:g.56370695T>C	GRCh37
NC_000016.8:g.54928196T>C	NCBI36
NG_042800.1:g.150445T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.646T>C	ENSP00000262494.7:p.Phe216Leu
ENST00000262493.12:c.646T>C MANE Select	ENSP00000262493.6:p.Phe216Leu
ENST00000262494.12:c.646T>C	ENSP00000262494.7:p.Phe216Leu
ENST00000562316.6:c.313T>C	ENSP00000457238.2:p.Phe105Leu
ENST00000568375.2:c.38T>C
ENST00000638185.1:n.861T>C
ENST00000638210.1:n.946T>C
ENST00000638705.1:c.646T>C	ENSP00000491223.1:p.Phe216Leu
ENST00000638836.1:n.556T>C
ENST00000639055.1:n.1367T>C
ENST00000639251.1:n.547T>C
ENST00000639268.1:c.281T>C
ENST00000639341.1:c.171T>C
ENST00000639770.1:c.684T>C	ENSP00000491999.1:n.684T>C
ENST00000640390.1:n.576T>C
ENST00000640469.1:c.10T>C	ENSP00000491875.1:p.Phe4Leu
ENST00000640560.1:n.422T>C
ENST00000640893.1:c.*44T>C	ENSP00000492677.1:n.*44T>C
ENST00000262493.10:c.646T>C	ENSP00000262493.6:p.Phe216Leu
ENST00000262494.11:c.646T>C	ENSP00000262494.7:p.Phe216Leu
ENST00000568375.1:n.38T>C
NM_020988.2:c.646T>C	NP_066268.1:p.Phe216Leu
NM_138736.2:c.646T>C	NP_620073.2:p.Phe216Leu
XM_011523003.1:c.520T>C	XP_011521305.1:p.Phe174Leu
XM_011523003.3:c.520T>C	XP_011521305.1:p.Phe174Leu
NM_020988.3:c.646T>C MANE Select	NP_066268.1:p.Phe216Leu
NM_138736.3:c.646T>C	NP_620073.2:p.Phe216Leu