Canonical Allele Identifier: CA395951595

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368719A>C (hg19) ; chr16:g.56334807A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334807A>C , CM000678.2:g.56334807A>C	GRCh38
NC_000016.9:g.56368719A>C , CM000678.1:g.56368719A>C	GRCh37
NC_000016.8:g.54926220A>C	NCBI36
NG_042800.1:g.148469A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.543A>C	ENSP00000262494.7:p.Lys181Asn
ENST00000262493.12:c.543A>C MANE Select	ENSP00000262493.6:p.Lys181Asn
ENST00000262494.12:c.543A>C	ENSP00000262494.7:p.Lys181Asn
ENST00000562316.6:c.210A>C	ENSP00000457238.2:p.Lys70Asn
ENST00000638185.1:n.758A>C
ENST00000638210.1:n.843A>C
ENST00000638705.1:c.543A>C	ENSP00000491223.1:p.Lys181Asn
ENST00000638836.1:n.453A>C
ENST00000639055.1:n.1264A>C
ENST00000639251.1:n.444A>C
ENST00000639268.1:c.229-1924A>C
ENST00000639341.1:c.68A>C
ENST00000639770.1:c.581A>C	ENSP00000491999.1:n.581A>C
ENST00000640390.1:n.473A>C
ENST00000640893.1:c.382A>C	ENSP00000492677.1:p.Asn128His
ENST00000262493.10:c.543A>C	ENSP00000262493.6:p.Lys181Asn
ENST00000262494.11:c.543A>C	ENSP00000262494.7:p.Lys181Asn
ENST00000562316.5:c.282A>C	ENSP00000457238.1:p.Lys94Asn
NM_020988.2:c.543A>C	NP_066268.1:p.Lys181Asn
NM_138736.2:c.543A>C	NP_620073.2:p.Lys181Asn
XM_011523003.1:c.417A>C	XP_011521305.1:p.Lys139Asn
XM_011523003.3:c.417A>C	XP_011521305.1:p.Lys139Asn
NM_020988.3:c.543A>C MANE Select	NP_066268.1:p.Lys181Asn
NM_138736.3:c.543A>C	NP_620073.2:p.Lys181Asn