Canonical Allele Identifier: CA395952334

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370731C>T (hg19) ; chr16:g.56336819C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336819C>T , CM000678.2:g.56336819C>T	GRCh38
NC_000016.9:g.56370731C>T , CM000678.1:g.56370731C>T	GRCh37
NC_000016.8:g.54928232C>T	NCBI36
NG_042800.1:g.150481C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.682C>T	ENSP00000262494.7:p.Leu228Phe
ENST00000262493.12:c.682C>T MANE Select	ENSP00000262493.6:p.Leu228Phe
ENST00000262494.12:c.682C>T	ENSP00000262494.7:p.Leu228Phe
ENST00000562316.6:c.349C>T	ENSP00000457238.2:p.Leu117Phe
ENST00000568375.2:c.74C>T
ENST00000638185.1:n.897C>T
ENST00000638210.1:n.982C>T
ENST00000638705.1:c.682C>T	ENSP00000491223.1:p.Leu228Phe
ENST00000638836.1:n.592C>T
ENST00000639055.1:n.1403C>T
ENST00000639251.1:n.583C>T
ENST00000639268.1:c.317C>T
ENST00000639341.1:c.207C>T
ENST00000639770.1:c.720C>T	ENSP00000491999.1:n.720C>T
ENST00000640390.1:n.612C>T
ENST00000640469.1:c.46C>T	ENSP00000491875.1:p.Leu16Phe
ENST00000640560.1:n.458C>T
ENST00000640893.1:c.*80C>T	ENSP00000492677.1:n.*80C>T
ENST00000262493.10:c.682C>T	ENSP00000262493.6:p.Leu228Phe
ENST00000262494.11:c.682C>T	ENSP00000262494.7:p.Leu228Phe
ENST00000568375.1:n.74C>T
NM_020988.2:c.682C>T	NP_066268.1:p.Leu228Phe
NM_138736.2:c.682C>T	NP_620073.2:p.Leu228Phe
XM_011523003.1:c.556C>T	XP_011521305.1:p.Leu186Phe
XM_011523003.3:c.556C>T	XP_011521305.1:p.Leu186Phe
NM_020988.3:c.682C>T MANE Select	NP_066268.1:p.Leu228Phe
NM_138736.3:c.682C>T	NP_620073.2:p.Leu228Phe