Canonical Allele Identifier: CA395952213

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370681A>C (hg19) ; chr16:g.56336769A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336769A>C , CM000678.2:g.56336769A>C	GRCh38
NC_000016.9:g.56370681A>C , CM000678.1:g.56370681A>C	GRCh37
NC_000016.8:g.54928182A>C	NCBI36
NG_042800.1:g.150431A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.632A>C	ENSP00000262494.7:p.Lys211Thr
ENST00000262493.12:c.632A>C MANE Select	ENSP00000262493.6:p.Lys211Thr
ENST00000262494.12:c.632A>C	ENSP00000262494.7:p.Lys211Thr
ENST00000562316.6:c.299A>C	ENSP00000457238.2:p.Lys100Thr
ENST00000568375.2:c.24A>C
ENST00000638185.1:n.847A>C
ENST00000638210.1:n.932A>C
ENST00000638705.1:c.632A>C	ENSP00000491223.1:p.Lys211Thr
ENST00000638836.1:n.542A>C
ENST00000639055.1:n.1353A>C
ENST00000639251.1:n.533A>C
ENST00000639268.1:c.267A>C
ENST00000639341.1:c.157A>C
ENST00000639770.1:c.670A>C	ENSP00000491999.1:n.670A>C
ENST00000640390.1:n.562A>C
ENST00000640560.1:n.408A>C
ENST00000640893.1:c.*30A>C	ENSP00000492677.1:n.*30A>C
ENST00000262493.10:c.632A>C	ENSP00000262493.6:p.Lys211Thr
ENST00000262494.11:c.632A>C	ENSP00000262494.7:p.Lys211Thr
ENST00000568375.1:n.24A>C
NM_020988.2:c.632A>C	NP_066268.1:p.Lys211Thr
NM_138736.2:c.632A>C	NP_620073.2:p.Lys211Thr
XM_011523003.1:c.506A>C	XP_011521305.1:p.Lys169Thr
XM_011523003.3:c.506A>C	XP_011521305.1:p.Lys169Thr
NM_020988.3:c.632A>C MANE Select	NP_066268.1:p.Lys211Thr
NM_138736.3:c.632A>C	NP_620073.2:p.Lys211Thr