Canonical Allele Identifier: CA395954899

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385432G>C (hg19) ; chr16:g.56351520G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351520G>C , CM000678.2:g.56351520G>C	GRCh38
NC_000016.9:g.56385432G>C , CM000678.1:g.56385432G>C	GRCh37
NC_000016.8:g.54942933G>C	NCBI36
NG_042800.1:g.165182G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.860G>C MANE Select	ENSP00000262493.6:p.Cys287Ser
ENST00000562316.6:c.527G>C	ENSP00000457238.2:p.Cys176Ser
ENST00000564727.2:c.164G>C	ENSP00000454971.2:p.Cys55Ser
ENST00000568375.2:c.116-3346G>C
ENST00000638185.1:n.1075G>C
ENST00000638210.1:n.1160G>C
ENST00000638705.1:c.860G>C	ENSP00000491223.1:p.Cys287Ser
ENST00000638836.1:n.770G>C
ENST00000639055.1:n.1581G>C
ENST00000639251.1:n.761G>C
ENST00000639268.1:c.495G>C
ENST00000639341.1:c.385G>C
ENST00000639770.1:c.898G>C	ENSP00000491999.1:n.898G>C
ENST00000640390.1:n.790G>C
ENST00000640469.1:c.224G>C	ENSP00000491875.1:p.Cys75Ser
ENST00000640560.1:n.636G>C
ENST00000640893.1:c.*258G>C	ENSP00000492677.1:n.*258G>C
ENST00000262493.10:c.860G>C	ENSP00000262493.6:p.Cys287Ser
ENST00000564727.1:c.80G>C	ENSP00000454971.1:p.Cys27Ser
ENST00000568375.1:n.116-3346G>C
NM_020988.2:c.860G>C	NP_066268.1:p.Cys287Ser
XM_011523003.1:c.734G>C	XP_011521305.1:p.Cys245Ser
XM_011523003.3:c.734G>C	XP_011521305.1:p.Cys245Ser
NM_020988.3:c.860G>C MANE Select	NP_066268.1:p.Cys287Ser