Canonical Allele Identifier: CA395954616

Gene: GNAO1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.742C>A MANE Select	ENSP00000262493.6:p.Leu248Ile
ENST00000562316.6:c.409C>A	ENSP00000457238.2:p.Leu137Ile
ENST00000564727.2:c.46C>A	ENSP00000454971.2:p.Leu16Ile
ENST00000568375.2:c.116-3464C>A
ENST00000638185.1:n.957C>A
ENST00000638210.1:n.1042C>A
ENST00000638705.1:c.742C>A	ENSP00000491223.1:p.Leu248Ile
ENST00000638836.1:n.652C>A
ENST00000639055.1:n.1463C>A
ENST00000639251.1:n.643C>A
ENST00000639268.1:c.377C>A
ENST00000639341.1:c.267C>A
ENST00000639770.1:c.780C>A	ENSP00000491999.1:n.780C>A
ENST00000640390.1:n.672C>A
ENST00000640469.1:c.106C>A	ENSP00000491875.1:p.Leu36Ile
ENST00000640560.1:n.518C>A
ENST00000640893.1:c.*140C>A	ENSP00000492677.1:n.*140C>A
ENST00000262493.10:c.742C>A	ENSP00000262493.6:p.Leu248Ile
ENST00000568375.1:n.116-3464C>A
NM_020988.2:c.742C>A	NP_066268.1:p.Leu248Ile
XM_011523003.1:c.616C>A	XP_011521305.1:p.Leu206Ile
XM_011523003.3:c.616C>A	XP_011521305.1:p.Leu206Ile
NM_020988.3:c.742C>A MANE Select	NP_066268.1:p.Leu248Ile