Canonical Allele Identifier: CA395954618

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385314C>T (hg19) ; chr16:g.56351402C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351402C>T , CM000678.2:g.56351402C>T	GRCh38
NC_000016.9:g.56385314C>T , CM000678.1:g.56385314C>T	GRCh37
NC_000016.8:g.54942815C>T	NCBI36
NG_042800.1:g.165064C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.742C>T MANE Select	ENSP00000262493.6:p.Leu248Phe
ENST00000562316.6:c.409C>T	ENSP00000457238.2:p.Leu137Phe
ENST00000564727.2:c.46C>T	ENSP00000454971.2:p.Leu16Phe
ENST00000568375.2:c.116-3464C>T
ENST00000638185.1:n.957C>T
ENST00000638210.1:n.1042C>T
ENST00000638705.1:c.742C>T	ENSP00000491223.1:p.Leu248Phe
ENST00000638836.1:n.652C>T
ENST00000639055.1:n.1463C>T
ENST00000639251.1:n.643C>T
ENST00000639268.1:c.377C>T
ENST00000639341.1:c.267C>T
ENST00000639770.1:c.780C>T	ENSP00000491999.1:n.780C>T
ENST00000640390.1:n.672C>T
ENST00000640469.1:c.106C>T	ENSP00000491875.1:p.Leu36Phe
ENST00000640560.1:n.518C>T
ENST00000640893.1:c.*140C>T	ENSP00000492677.1:n.*140C>T
ENST00000262493.10:c.742C>T	ENSP00000262493.6:p.Leu248Phe
ENST00000568375.1:n.116-3464C>T
NM_020988.2:c.742C>T	NP_066268.1:p.Leu248Phe
XM_011523003.1:c.616C>T	XP_011521305.1:p.Leu206Phe
XM_011523003.3:c.616C>T	XP_011521305.1:p.Leu206Phe
NM_020988.3:c.742C>T MANE Select	NP_066268.1:p.Leu248Phe