Canonical Allele Identifier: CA395955326

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388921G>T (hg19) ; chr16:g.56355009G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355009G>T , CM000678.2:g.56355009G>T	GRCh38
NC_000016.9:g.56388921G>T , CM000678.1:g.56388921G>T	GRCh37
NC_000016.8:g.54946422G>T	NCBI36
NG_042800.1:g.168671G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1021G>T MANE Select	ENSP00000262493.6:p.Asp341Tyr
ENST00000562316.6:c.545-1094G>T	ENSP00000457238.2:n.545-1094G>T
ENST00000564727.2:c.303+22G>T	ENSP00000454971.2:n.303+22G>T
ENST00000568375.2:c.259G>T
ENST00000638210.1:n.1321G>T
ENST00000638705.1:c.1021G>T	ENSP00000491223.1:p.Asp341Tyr
ENST00000638836.1:n.931G>T
ENST00000639251.1:n.922G>T
ENST00000639268.1:c.656G>T
ENST00000639341.1:c.546G>T
ENST00000639770.1:c.1059G>T	ENSP00000491999.1:n.1059G>T
ENST00000640390.1:n.951G>T
ENST00000640469.1:c.385G>T	ENSP00000491875.1:p.Asp129Tyr
ENST00000640560.1:n.797G>T
ENST00000640893.1:c.*419G>T	ENSP00000492677.1:n.*419G>T
ENST00000262493.10:c.1021G>T	ENSP00000262493.6:p.Asp341Tyr
ENST00000564727.1:c.241G>T	ENSP00000454971.1:p.Asp81Tyr
ENST00000568375.1:n.259G>T
NM_020988.2:c.1021G>T	NP_066268.1:p.Asp341Tyr
XM_011523003.1:c.895G>T	XP_011521305.1:p.Asp299Tyr
XM_011523003.3:c.895G>T	XP_011521305.1:p.Asp299Tyr
NM_020988.3:c.1021G>T MANE Select	NP_066268.1:p.Asp341Tyr