Canonical Allele Identifier: CA281428193

Gene: GNAO1

Linked Data

• dbSNP Id: rs12721461
• MyVariant Identifiers: chr16:g.56370705T>C (hg19) ; chr16:g.56336793T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336793T>C , CM000678.2:g.56336793T>C	GRCh38
NC_000016.9:g.56370705T>C , CM000678.1:g.56370705T>C	GRCh37
NC_000016.8:g.54928206T>C	NCBI36
NG_042800.1:g.150455T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.656T>C	ENSP00000262494.7:p.Val219Ala
ENST00000262493.12:c.656T>C MANE Select	ENSP00000262493.6:p.Val219Ala
ENST00000262494.12:c.656T>C	ENSP00000262494.7:p.Val219Ala
ENST00000562316.6:c.323T>C	ENSP00000457238.2:p.Val108Ala
ENST00000568375.2:c.48T>C
ENST00000638185.1:n.871T>C
ENST00000638210.1:n.956T>C
ENST00000638705.1:c.656T>C	ENSP00000491223.1:p.Val219Ala
ENST00000638836.1:n.566T>C
ENST00000639055.1:n.1377T>C
ENST00000639251.1:n.557T>C
ENST00000639268.1:c.291T>C
ENST00000639341.1:c.181T>C
ENST00000639770.1:c.694T>C	ENSP00000491999.1:n.694T>C
ENST00000640390.1:n.586T>C
ENST00000640469.1:c.20T>C	ENSP00000491875.1:p.Val7Ala
ENST00000640560.1:n.432T>C
ENST00000640893.1:c.*54T>C	ENSP00000492677.1:n.*54T>C
ENST00000262493.10:c.656T>C	ENSP00000262493.6:p.Val219Ala
ENST00000262494.11:c.656T>C	ENSP00000262494.7:p.Val219Ala
ENST00000568375.1:n.48T>C
NM_020988.2:c.656T>C	NP_066268.1:p.Val219Ala
NM_138736.2:c.656T>C	NP_620073.2:p.Val219Ala
XM_011523003.1:c.530T>C	XP_011521305.1:p.Val177Ala
XM_011523003.3:c.530T>C	XP_011521305.1:p.Val177Ala
NM_020988.3:c.656T>C MANE Select	NP_066268.1:p.Val219Ala
NM_138736.3:c.656T>C	NP_620073.2:p.Val219Ala