Canonical Allele Identifier: CA395954729

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385359A>C (hg19) ; chr16:g.56351447A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351447A>C , CM000678.2:g.56351447A>C	GRCh38
NC_000016.9:g.56385359A>C , CM000678.1:g.56385359A>C	GRCh37
NC_000016.8:g.54942860A>C	NCBI36
NG_042800.1:g.165109A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.787A>C MANE Select	ENSP00000262493.6:p.Thr263Pro
ENST00000562316.6:c.454A>C	ENSP00000457238.2:p.Thr152Pro
ENST00000564727.2:c.91A>C	ENSP00000454971.2:p.Thr31Pro
ENST00000568375.2:c.116-3419A>C
ENST00000638185.1:n.1002A>C
ENST00000638210.1:n.1087A>C
ENST00000638705.1:c.787A>C	ENSP00000491223.1:p.Thr263Pro
ENST00000638836.1:n.697A>C
ENST00000639055.1:n.1508A>C
ENST00000639251.1:n.688A>C
ENST00000639268.1:c.422A>C
ENST00000639341.1:c.312A>C
ENST00000639770.1:c.825A>C	ENSP00000491999.1:n.825A>C
ENST00000640390.1:n.717A>C
ENST00000640469.1:c.151A>C	ENSP00000491875.1:p.Thr51Pro
ENST00000640560.1:n.563A>C
ENST00000640893.1:c.*185A>C	ENSP00000492677.1:n.*185A>C
ENST00000262493.10:c.787A>C	ENSP00000262493.6:p.Thr263Pro
ENST00000564727.1:c.7A>C	ENSP00000454971.1:p.Thr3Pro
ENST00000568375.1:n.116-3419A>C
NM_020988.2:c.787A>C	NP_066268.1:p.Thr263Pro
XM_011523003.1:c.661A>C	XP_011521305.1:p.Thr221Pro
XM_011523003.3:c.661A>C	XP_011521305.1:p.Thr221Pro
NM_020988.3:c.787A>C MANE Select	NP_066268.1:p.Thr263Pro