Canonical Allele Identifier: CA495586026

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388938C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355026C>T , CM000678.2:g.56355026C>T	GRCh38
NC_000016.9:g.56388938C>T , CM000678.1:g.56388938C>T	GRCh37
NC_000016.8:g.54946439C>T	NCBI36
NG_042800.1:g.168688C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1038C>T MANE Select	ENSP00000262493.6:p.Asn346=
ENST00000562316.6:c.545-1077C>T	ENSP00000457238.2:n.545-1077C>T
ENST00000564727.2:c.303+39C>T	ENSP00000454971.2:n.303+39C>T
ENST00000568375.2:c.276C>T
ENST00000638210.1:n.1338C>T
ENST00000638705.1:c.1038C>T	ENSP00000491223.1:p.Asn346=
ENST00000638836.1:n.948C>T
ENST00000639251.1:n.939C>T
ENST00000639268.1:c.673C>T
ENST00000639341.1:c.563C>T
ENST00000639770.1:c.1076C>T	ENSP00000491999.1:n.1076C>T
ENST00000640390.1:n.968C>T
ENST00000640469.1:c.402C>T	ENSP00000491875.1:p.Asn134=
ENST00000640560.1:n.814C>T
ENST00000640893.1:c.*436C>T	ENSP00000492677.1:n.*436C>T
ENST00000262493.10:c.1038C>T	ENSP00000262493.6:p.Asn346=
ENST00000564727.1:c.258C>T	ENSP00000454971.1:p.Asn86=
ENST00000568375.1:n.276C>T
NM_020988.2:c.1038C>T	NP_066268.1:p.Asn346=
XM_011523003.1:c.912C>T	XP_011521305.1:p.Asn304=
XM_011523003.3:c.912C>T	XP_011521305.1:p.Asn304=
NM_020988.3:c.1038C>T MANE Select	NP_066268.1:p.Asn346=