Canonical Allele Identifier: CA495573509

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368716C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334804C>T , CM000678.2:g.56334804C>T	GRCh38
NC_000016.9:g.56368716C>T , CM000678.1:g.56368716C>T	GRCh37
NC_000016.8:g.54926217C>T	NCBI36
NG_042800.1:g.148466C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.540C>T	ENSP00000262494.7:p.Val180=
ENST00000262493.12:c.540C>T MANE Select	ENSP00000262493.6:p.Val180=
ENST00000262494.12:c.540C>T	ENSP00000262494.7:p.Val180=
ENST00000562316.6:c.207C>T	ENSP00000457238.2:p.Val69=
ENST00000638185.1:n.755C>T
ENST00000638210.1:n.840C>T
ENST00000638705.1:c.540C>T	ENSP00000491223.1:p.Val180=
ENST00000638836.1:n.450C>T
ENST00000639055.1:n.1261C>T
ENST00000639251.1:n.441C>T
ENST00000639268.1:c.229-1927C>T
ENST00000639341.1:c.65C>T
ENST00000639770.1:c.578C>T	ENSP00000491999.1:n.578C>T
ENST00000640390.1:n.470C>T
ENST00000640893.1:c.379C>T	ENSP00000492677.1:p.Gln127Ter
ENST00000262493.10:c.540C>T	ENSP00000262493.6:p.Val180=
ENST00000262494.11:c.540C>T	ENSP00000262494.7:p.Val180=
ENST00000562316.5:c.279C>T	ENSP00000457238.1:p.Val93=
NM_020988.2:c.540C>T	NP_066268.1:p.Val180=
NM_138736.2:c.540C>T	NP_620073.2:p.Val180=
XM_011523003.1:c.414C>T	XP_011521305.1:p.Val138=
XM_011523003.3:c.414C>T	XP_011521305.1:p.Val138=
NM_020988.3:c.540C>T MANE Select	NP_066268.1:p.Val180=
NM_138736.3:c.540C>T	NP_620073.2:p.Val180=