Canonical Allele Identifier: CA395955203

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388885A>C (hg19) ; chr16:g.56354973A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354973A>C , CM000678.2:g.56354973A>C	GRCh38
NC_000016.9:g.56388885A>C , CM000678.1:g.56388885A>C	GRCh37
NC_000016.8:g.54946386A>C	NCBI36
NG_042800.1:g.168635A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.985A>C MANE Select	ENSP00000262493.6:p.Thr329Pro
ENST00000562316.6:c.545-1130A>C	ENSP00000457238.2:n.545-1130A>C
ENST00000564727.2:c.289A>C	ENSP00000454971.2:p.Thr97Pro
ENST00000568375.2:c.223A>C
ENST00000638210.1:n.1285A>C
ENST00000638705.1:c.985A>C	ENSP00000491223.1:p.Thr329Pro
ENST00000638836.1:n.895A>C
ENST00000639251.1:n.886A>C
ENST00000639268.1:c.620A>C
ENST00000639341.1:c.510A>C
ENST00000639770.1:c.1023A>C	ENSP00000491999.1:n.1023A>C
ENST00000640390.1:n.915A>C
ENST00000640469.1:c.349A>C	ENSP00000491875.1:p.Thr117Pro
ENST00000640560.1:n.761A>C
ENST00000640893.1:c.*383A>C	ENSP00000492677.1:n.*383A>C
ENST00000262493.10:c.985A>C	ENSP00000262493.6:p.Thr329Pro
ENST00000564727.1:c.205A>C	ENSP00000454971.1:p.Thr69Pro
ENST00000568375.1:n.223A>C
NM_020988.2:c.985A>C	NP_066268.1:p.Thr329Pro
XM_011523003.1:c.859A>C	XP_011521305.1:p.Thr287Pro
XM_011523003.3:c.859A>C	XP_011521305.1:p.Thr287Pro
NM_020988.3:c.985A>C MANE Select	NP_066268.1:p.Thr329Pro