Canonical Allele Identifier: CA395954936

Gene: GNAO1

Linked Data

• dbSNP Id: rs2037921244
• gnomAD v3: 16-56351535-C-T
• gnomAD v4: 16-56351535-C-T
• MyVariant Identifiers: chr16:g.56385447C>T (hg19) ; chr16:g.56351535C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351535C>T , CM000678.2:g.56351535C>T	GRCh38
NC_000016.9:g.56385447C>T , CM000678.1:g.56385447C>T	GRCh37
NC_000016.8:g.54942948C>T	NCBI36
NG_042800.1:g.165197C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.875C>T MANE Select	ENSP00000262493.6:p.Thr292Ile
ENST00000562316.6:c.542C>T	ENSP00000457238.2:p.Thr181Ile
ENST00000564727.2:c.179C>T	ENSP00000454971.2:p.Thr60Ile
ENST00000568375.2:c.116-3331C>T
ENST00000638185.1:n.1090C>T
ENST00000638210.1:n.1175C>T
ENST00000638705.1:c.875C>T	ENSP00000491223.1:p.Thr292Ile
ENST00000638836.1:n.785C>T
ENST00000639055.1:n.1596C>T
ENST00000639251.1:n.776C>T
ENST00000639268.1:c.510C>T
ENST00000639341.1:c.400C>T
ENST00000639770.1:c.913C>T	ENSP00000491999.1:n.913C>T
ENST00000640390.1:n.805C>T
ENST00000640469.1:c.239C>T	ENSP00000491875.1:p.Thr80Ile
ENST00000640560.1:n.651C>T
ENST00000640893.1:c.*273C>T	ENSP00000492677.1:n.*273C>T
ENST00000262493.10:c.875C>T	ENSP00000262493.6:p.Thr292Ile
ENST00000564727.1:c.95C>T	ENSP00000454971.1:p.Thr32Ile
ENST00000568375.1:n.116-3331C>T
NM_020988.2:c.875C>T	NP_066268.1:p.Thr292Ile
XM_011523003.1:c.749C>T	XP_011521305.1:p.Thr250Ile
XM_011523003.3:c.749C>T	XP_011521305.1:p.Thr250Ile
NM_020988.3:c.875C>T MANE Select	NP_066268.1:p.Thr292Ile