Canonical Allele Identifier: CA395951572

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368714G>C (hg19) ; chr16:g.56334802G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334802G>C , CM000678.2:g.56334802G>C	GRCh38
NC_000016.9:g.56368714G>C , CM000678.1:g.56368714G>C	GRCh37
NC_000016.8:g.54926215G>C	NCBI36
NG_042800.1:g.148464G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.538G>C	ENSP00000262494.7:p.Val180Leu
ENST00000262493.12:c.538G>C MANE Select	ENSP00000262493.6:p.Val180Leu
ENST00000262494.12:c.538G>C	ENSP00000262494.7:p.Val180Leu
ENST00000562316.6:c.205G>C	ENSP00000457238.2:p.Val69Leu
ENST00000638185.1:n.753G>C
ENST00000638210.1:n.838G>C
ENST00000638705.1:c.538G>C	ENSP00000491223.1:p.Val180Leu
ENST00000638836.1:n.448G>C
ENST00000639055.1:n.1259G>C
ENST00000639251.1:n.439G>C
ENST00000639268.1:c.229-1929G>C
ENST00000639341.1:c.63G>C
ENST00000639770.1:c.576G>C	ENSP00000491999.1:n.576G>C
ENST00000640390.1:n.468G>C
ENST00000640893.1:c.377G>C	ENSP00000492677.1:p.Gly126Ala
ENST00000262493.10:c.538G>C	ENSP00000262493.6:p.Val180Leu
ENST00000262494.11:c.538G>C	ENSP00000262494.7:p.Val180Leu
ENST00000562316.5:c.277G>C	ENSP00000457238.1:p.Val93Leu
NM_020988.2:c.538G>C	NP_066268.1:p.Val180Leu
NM_138736.2:c.538G>C	NP_620073.2:p.Val180Leu
XM_011523003.1:c.412G>C	XP_011521305.1:p.Val138Leu
XM_011523003.3:c.412G>C	XP_011521305.1:p.Val138Leu
NM_020988.3:c.538G>C MANE Select	NP_066268.1:p.Val180Leu
NM_138736.3:c.538G>C	NP_620073.2:p.Val180Leu