Canonical Allele Identifier: CA395954641

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385324T>C (hg19) ; chr16:g.56351412T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351412T>C , CM000678.2:g.56351412T>C	GRCh38
NC_000016.9:g.56385324T>C , CM000678.1:g.56385324T>C	GRCh37
NC_000016.8:g.54942825T>C	NCBI36
NG_042800.1:g.165074T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.752T>C MANE Select	ENSP00000262493.6:p.Phe251Ser
ENST00000562316.6:c.419T>C	ENSP00000457238.2:p.Phe140Ser
ENST00000564727.2:c.56T>C	ENSP00000454971.2:p.Phe19Ser
ENST00000568375.2:c.116-3454T>C
ENST00000638185.1:n.967T>C
ENST00000638210.1:n.1052T>C
ENST00000638705.1:c.752T>C	ENSP00000491223.1:p.Phe251Ser
ENST00000638836.1:n.662T>C
ENST00000639055.1:n.1473T>C
ENST00000639251.1:n.653T>C
ENST00000639268.1:c.387T>C
ENST00000639341.1:c.277T>C
ENST00000639770.1:c.790T>C	ENSP00000491999.1:n.790T>C
ENST00000640390.1:n.682T>C
ENST00000640469.1:c.116T>C	ENSP00000491875.1:p.Phe39Ser
ENST00000640560.1:n.528T>C
ENST00000640893.1:c.*150T>C	ENSP00000492677.1:n.*150T>C
ENST00000262493.10:c.752T>C	ENSP00000262493.6:p.Phe251Ser
ENST00000568375.1:n.116-3454T>C
NM_020988.2:c.752T>C	NP_066268.1:p.Phe251Ser
XM_011523003.1:c.626T>C	XP_011521305.1:p.Phe209Ser
XM_011523003.3:c.626T>C	XP_011521305.1:p.Phe209Ser
NM_020988.3:c.752T>C MANE Select	NP_066268.1:p.Phe251Ser