Canonical Allele Identifier: CA495573568

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56336734-G-T
• MyVariant Identifiers: chr16:g.56370646G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336734G>T , CM000678.2:g.56336734G>T	GRCh38
NC_000016.9:g.56370646G>T , CM000678.1:g.56370646G>T	GRCh37
NC_000016.8:g.54928147G>T	NCBI36
NG_042800.1:g.150396G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.597G>T	ENSP00000262494.7:p.Leu199=
ENST00000262493.12:c.597G>T MANE Select	ENSP00000262493.6:p.Leu199=
ENST00000262494.12:c.597G>T	ENSP00000262494.7:p.Leu199=
ENST00000562316.6:c.264G>T	ENSP00000457238.2:p.Leu88=
ENST00000638185.1:n.812G>T
ENST00000638210.1:n.897G>T
ENST00000638705.1:c.597G>T	ENSP00000491223.1:p.Leu199=
ENST00000638836.1:n.507G>T
ENST00000639055.1:n.1318G>T
ENST00000639251.1:n.498G>T
ENST00000639268.1:c.232G>T
ENST00000639341.1:c.122G>T
ENST00000639770.1:c.635G>T	ENSP00000491999.1:n.635G>T
ENST00000640390.1:n.527G>T
ENST00000640560.1:n.373G>T
ENST00000640893.1:c.436G>T	ENSP00000492677.1:p.Val146Phe
ENST00000262493.10:c.597G>T	ENSP00000262493.6:p.Leu199=
ENST00000262494.11:c.597G>T	ENSP00000262494.7:p.Leu199=
NM_020988.2:c.597G>T	NP_066268.1:p.Leu199=
NM_138736.2:c.597G>T	NP_620073.2:p.Leu199=
XM_011523003.1:c.471G>T	XP_011521305.1:p.Leu157=
XM_011523003.3:c.471G>T	XP_011521305.1:p.Leu157=
NM_020988.3:c.597G>T MANE Select	NP_066268.1:p.Leu199=
NM_138736.3:c.597G>T	NP_620073.2:p.Leu199=