Canonical Allele Identifier: CA622307721

Gene: GNAO1

Linked Data

• dbSNP Id: rs1455737419
• gnomAD v2: 16-56385757-T-TAG
• gnomAD v4: 16-56351845-T-TAG
• MyVariant Identifiers: chr16:g.56385757_56385758insAG (hg19) ; chr16:g.56351845_56351846insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351847_56351848dup , CM000678.2:g.56351847_56351848dup	GRCh38
NC_000016.9:g.56385759_56385760dup , CM000678.1:g.56385759_56385760dup	GRCh37
NC_000016.8:g.54943260_54943261dup	NCBI36
NG_042800.1:g.165509_165510dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.877+310_877+311dup MANE Select	ENSP00000262493.6:n.877+310_877+311dup
ENST00000562316.6:c.544+310_544+311dup	ENSP00000457238.2:n.544+310_544+311dup
ENST00000564727.2:c.181+310_181+311dup	ENSP00000454971.2:n.181+310_181+311dup
ENST00000568375.2:c.116-3019_116-3018dup
ENST00000638185.1:n.1092+310_1092+311dup
ENST00000638210.1:n.1177+310_1177+311dup
ENST00000638705.1:c.877+310_877+311dup	ENSP00000491223.1:n.877+310_877+311dup
ENST00000638836.1:n.787+310_787+311dup
ENST00000639055.1:n.1598+310_1598+311dup
ENST00000639251.1:n.778+310_778+311dup
ENST00000639268.1:c.512+310_512+311dup
ENST00000639341.1:c.402+310_402+311dup
ENST00000639770.1:c.915+310_915+311dup	ENSP00000491999.1:n.915+310_915+311dup
ENST00000640390.1:n.807+310_807+311dup
ENST00000640469.1:c.241+310_241+311dup	ENSP00000491875.1:n.241+310_241+311dup
ENST00000640560.1:n.653+310_653+311dup
ENST00000640893.1:c.*275+310_*275+311dup	ENSP00000492677.1:n.*275+310_*275+311dup
ENST00000262493.10:c.877+310_877+311dup	ENSP00000262493.6:n.877+310_877+311dup
ENST00000564727.1:c.97+310_97+311dup	ENSP00000454971.1:n.97+310_97+311dup
ENST00000568375.1:n.116-3019_116-3018dup
NM_020988.2:c.877+310_877+311dup	NP_066268.1:n.877+310_877+311dup
XM_011523003.1:c.751+310_751+311dup	XP_011521305.1:n.751+310_751+311dup
XM_011523003.3:c.751+310_751+311dup	XP_011521305.1:n.751+310_751+311dup
NM_020988.3:c.877+310_877+311dup MANE Select	NP_066268.1:n.877+310_877+311dup