Canonical Allele Identifier: CA395954882

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385425A>C (hg19) ; chr16:g.56351513A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351513A>C , CM000678.2:g.56351513A>C	GRCh38
NC_000016.9:g.56385425A>C , CM000678.1:g.56385425A>C	GRCh37
NC_000016.8:g.54942926A>C	NCBI36
NG_042800.1:g.165175A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.853A>C MANE Select	ENSP00000262493.6:p.Thr285Pro
ENST00000562316.6:c.520A>C	ENSP00000457238.2:p.Thr174Pro
ENST00000564727.2:c.157A>C	ENSP00000454971.2:p.Thr53Pro
ENST00000568375.2:c.116-3353A>C
ENST00000638185.1:n.1068A>C
ENST00000638210.1:n.1153A>C
ENST00000638705.1:c.853A>C	ENSP00000491223.1:p.Thr285Pro
ENST00000638836.1:n.763A>C
ENST00000639055.1:n.1574A>C
ENST00000639251.1:n.754A>C
ENST00000639268.1:c.488A>C
ENST00000639341.1:c.378A>C
ENST00000639770.1:c.891A>C	ENSP00000491999.1:n.891A>C
ENST00000640390.1:n.783A>C
ENST00000640469.1:c.217A>C	ENSP00000491875.1:p.Thr73Pro
ENST00000640560.1:n.629A>C
ENST00000640893.1:c.*251A>C	ENSP00000492677.1:n.*251A>C
ENST00000262493.10:c.853A>C	ENSP00000262493.6:p.Thr285Pro
ENST00000564727.1:c.73A>C	ENSP00000454971.1:p.Thr25Pro
ENST00000568375.1:n.116-3353A>C
NM_020988.2:c.853A>C	NP_066268.1:p.Thr285Pro
XM_011523003.1:c.727A>C	XP_011521305.1:p.Thr243Pro
XM_011523003.3:c.727A>C	XP_011521305.1:p.Thr243Pro
NM_020988.3:c.853A>C MANE Select	NP_066268.1:p.Thr285Pro