Canonical Allele Identifier: CA395951579

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368715T>C (hg19) ; chr16:g.56334803T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334803T>C , CM000678.2:g.56334803T>C	GRCh38
NC_000016.9:g.56368715T>C , CM000678.1:g.56368715T>C	GRCh37
NC_000016.8:g.54926216T>C	NCBI36
NG_042800.1:g.148465T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.539T>C	ENSP00000262494.7:p.Val180Ala
ENST00000262493.12:c.539T>C MANE Select	ENSP00000262493.6:p.Val180Ala
ENST00000262494.12:c.539T>C	ENSP00000262494.7:p.Val180Ala
ENST00000562316.6:c.206T>C	ENSP00000457238.2:p.Val69Ala
ENST00000638185.1:n.754T>C
ENST00000638210.1:n.839T>C
ENST00000638705.1:c.539T>C	ENSP00000491223.1:p.Val180Ala
ENST00000638836.1:n.449T>C
ENST00000639055.1:n.1260T>C
ENST00000639251.1:n.440T>C
ENST00000639268.1:c.229-1928T>C
ENST00000639341.1:c.64T>C
ENST00000639770.1:c.577T>C	ENSP00000491999.1:n.577T>C
ENST00000640390.1:n.469T>C
ENST00000640893.1:c.378T>C	ENSP00000492677.1:p.Gly126=
ENST00000262493.10:c.539T>C	ENSP00000262493.6:p.Val180Ala
ENST00000262494.11:c.539T>C	ENSP00000262494.7:p.Val180Ala
ENST00000562316.5:c.278T>C	ENSP00000457238.1:p.Val93Ala
NM_020988.2:c.539T>C	NP_066268.1:p.Val180Ala
NM_138736.2:c.539T>C	NP_620073.2:p.Val180Ala
XM_011523003.1:c.413T>C	XP_011521305.1:p.Val138Ala
XM_011523003.3:c.413T>C	XP_011521305.1:p.Val138Ala
NM_020988.3:c.539T>C MANE Select	NP_066268.1:p.Val180Ala
NM_138736.3:c.539T>C	NP_620073.2:p.Val180Ala