Canonical Allele Identifier: CA495573701

Gene: GNAO1

Linked Data

• dbSNP Id: rs1428048444
• gnomAD v2: 16-56371092-T-TA
• gnomAD v3: 16-56337180-T-TA
• gnomAD v4: 16-56337180-T-TA
• MyVariant Identifiers: chr16:g.56371092_56371093insA (hg19) ; chr16:g.56337180_56337181insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56337187dup , CM000678.2:g.56337187dup	GRCh38
NC_000016.9:g.56371099dup , CM000678.1:g.56371099dup	GRCh37
NC_000016.8:g.54928600dup	NCBI36
NG_042800.1:g.150849dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.723+327dup	ENSP00000262494.7:n.723+327dup
ENST00000262493.12:c.723+327dup MANE Select	ENSP00000262493.6:n.723+327dup
ENST00000262494.12:c.723+327dup	ENSP00000262494.7:n.723+327dup
ENST00000562316.6:c.390+327dup	ENSP00000457238.2:n.390+327dup
ENST00000564727.2:c.27+327dup	ENSP00000454971.2:n.27+327dup
ENST00000568375.2:c.115+327dup
ENST00000638185.1:n.938+327dup
ENST00000638210.1:n.1023+327dup
ENST00000638705.1:c.723+327dup	ENSP00000491223.1:n.723+327dup
ENST00000638836.1:n.633+327dup
ENST00000639055.1:n.1444+327dup
ENST00000639251.1:n.624+327dup
ENST00000639268.1:c.358+327dup
ENST00000639341.1:c.248+327dup
ENST00000639770.1:c.761+327dup	ENSP00000491999.1:n.761+327dup
ENST00000640390.1:n.653+327dup
ENST00000640469.1:c.87+327dup	ENSP00000491875.1:n.87+327dup
ENST00000640560.1:n.499+327dup
ENST00000640893.1:c.*121+327dup	ENSP00000492677.1:n.*121+327dup
ENST00000262493.10:c.723+327dup	ENSP00000262493.6:n.723+327dup
ENST00000262494.11:c.723+327dup	ENSP00000262494.7:n.723+327dup
ENST00000568375.1:n.115+327dup
NM_020988.2:c.723+327dup	NP_066268.1:n.723+327dup
NM_138736.2:c.723+327dup	NP_620073.2:n.723+327dup
XM_011523003.1:c.597+327dup	XP_011521305.1:n.597+327dup
XM_011523003.3:c.597+327dup	XP_011521305.1:n.597+327dup
NM_020988.3:c.723+327dup MANE Select	NP_066268.1:n.723+327dup
NM_138736.3:c.723+327dup	NP_620073.2:n.723+327dup