Canonical Allele Identifier: CA495585987

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388902G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354990G>C , CM000678.2:g.56354990G>C	GRCh38
NC_000016.9:g.56388902G>C , CM000678.1:g.56388902G>C	GRCh37
NC_000016.8:g.54946403G>C	NCBI36
NG_042800.1:g.168652G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1002G>C MANE Select	ENSP00000262493.6:p.Val334=
ENST00000562316.6:c.545-1113G>C	ENSP00000457238.2:n.545-1113G>C
ENST00000564727.2:c.303+3G>C	ENSP00000454971.2:n.303+3G>C
ENST00000568375.2:c.240G>C
ENST00000638210.1:n.1302G>C
ENST00000638705.1:c.1002G>C	ENSP00000491223.1:p.Val334=
ENST00000638836.1:n.912G>C
ENST00000639251.1:n.903G>C
ENST00000639268.1:c.637G>C
ENST00000639341.1:c.527G>C
ENST00000639770.1:c.1040G>C	ENSP00000491999.1:n.1040G>C
ENST00000640390.1:n.932G>C
ENST00000640469.1:c.366G>C	ENSP00000491875.1:p.Val122=
ENST00000640560.1:n.778G>C
ENST00000640893.1:c.*400G>C	ENSP00000492677.1:n.*400G>C
ENST00000262493.10:c.1002G>C	ENSP00000262493.6:p.Val334=
ENST00000564727.1:c.222G>C	ENSP00000454971.1:p.Val74=
ENST00000568375.1:n.240G>C
NM_020988.2:c.1002G>C	NP_066268.1:p.Val334=
XM_011523003.1:c.876G>C	XP_011521305.1:p.Val292=
XM_011523003.3:c.876G>C	XP_011521305.1:p.Val292=
NM_020988.3:c.1002G>C MANE Select	NP_066268.1:p.Val334=