Canonical Allele Identifier: CA395954813

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385395T>C (hg19) ; chr16:g.56351483T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351483T>C , CM000678.2:g.56351483T>C	GRCh38
NC_000016.9:g.56385395T>C , CM000678.1:g.56385395T>C	GRCh37
NC_000016.8:g.54942896T>C	NCBI36
NG_042800.1:g.165145T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.823T>C MANE Select	ENSP00000262493.6:p.Phe275Leu
ENST00000562316.6:c.490T>C	ENSP00000457238.2:p.Phe164Leu
ENST00000564727.2:c.127T>C	ENSP00000454971.2:p.Phe43Leu
ENST00000568375.2:c.116-3383T>C
ENST00000638185.1:n.1038T>C
ENST00000638210.1:n.1123T>C
ENST00000638705.1:c.823T>C	ENSP00000491223.1:p.Phe275Leu
ENST00000638836.1:n.733T>C
ENST00000639055.1:n.1544T>C
ENST00000639251.1:n.724T>C
ENST00000639268.1:c.458T>C
ENST00000639341.1:c.348T>C
ENST00000639770.1:c.861T>C	ENSP00000491999.1:n.861T>C
ENST00000640390.1:n.753T>C
ENST00000640469.1:c.187T>C	ENSP00000491875.1:p.Phe63Leu
ENST00000640560.1:n.599T>C
ENST00000640893.1:c.*221T>C	ENSP00000492677.1:n.*221T>C
ENST00000262493.10:c.823T>C	ENSP00000262493.6:p.Phe275Leu
ENST00000564727.1:c.43T>C	ENSP00000454971.1:p.Phe15Leu
ENST00000568375.1:n.116-3383T>C
NM_020988.2:c.823T>C	NP_066268.1:p.Phe275Leu
XM_011523003.1:c.697T>C	XP_011521305.1:p.Phe233Leu
XM_011523003.3:c.697T>C	XP_011521305.1:p.Phe233Leu
NM_020988.3:c.823T>C MANE Select	NP_066268.1:p.Phe275Leu