Canonical Allele Identifier: CA395954636

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385321T>C (hg19) ; chr16:g.56351409T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351409T>C , CM000678.2:g.56351409T>C	GRCh38
NC_000016.9:g.56385321T>C , CM000678.1:g.56385321T>C	GRCh37
NC_000016.8:g.54942822T>C	NCBI36
NG_042800.1:g.165071T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.749T>C MANE Select	ENSP00000262493.6:p.Leu250Pro
ENST00000562316.6:c.416T>C	ENSP00000457238.2:p.Leu139Pro
ENST00000564727.2:c.53T>C	ENSP00000454971.2:p.Leu18Pro
ENST00000568375.2:c.116-3457T>C
ENST00000638185.1:n.964T>C
ENST00000638210.1:n.1049T>C
ENST00000638705.1:c.749T>C	ENSP00000491223.1:p.Leu250Pro
ENST00000638836.1:n.659T>C
ENST00000639055.1:n.1470T>C
ENST00000639251.1:n.650T>C
ENST00000639268.1:c.384T>C
ENST00000639341.1:c.274T>C
ENST00000639770.1:c.787T>C	ENSP00000491999.1:n.787T>C
ENST00000640390.1:n.679T>C
ENST00000640469.1:c.113T>C	ENSP00000491875.1:p.Leu38Pro
ENST00000640560.1:n.525T>C
ENST00000640893.1:c.*147T>C	ENSP00000492677.1:n.*147T>C
ENST00000262493.10:c.749T>C	ENSP00000262493.6:p.Leu250Pro
ENST00000568375.1:n.116-3457T>C
NM_020988.2:c.749T>C	NP_066268.1:p.Leu250Pro
XM_011523003.1:c.623T>C	XP_011521305.1:p.Leu208Pro
XM_011523003.3:c.623T>C	XP_011521305.1:p.Leu208Pro
NM_020988.3:c.749T>C MANE Select	NP_066268.1:p.Leu250Pro