Canonical Allele Identifier: CA395954621

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385315T>G (hg19) ; chr16:g.56351403T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351403T>G , CM000678.2:g.56351403T>G	GRCh38
NC_000016.9:g.56385315T>G , CM000678.1:g.56385315T>G	GRCh37
NC_000016.8:g.54942816T>G	NCBI36
NG_042800.1:g.165065T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.743T>G MANE Select	ENSP00000262493.6:p.Leu248Arg
ENST00000562316.6:c.410T>G	ENSP00000457238.2:p.Leu137Arg
ENST00000564727.2:c.47T>G	ENSP00000454971.2:p.Leu16Arg
ENST00000568375.2:c.116-3463T>G
ENST00000638185.1:n.958T>G
ENST00000638210.1:n.1043T>G
ENST00000638705.1:c.743T>G	ENSP00000491223.1:p.Leu248Arg
ENST00000638836.1:n.653T>G
ENST00000639055.1:n.1464T>G
ENST00000639251.1:n.644T>G
ENST00000639268.1:c.378T>G
ENST00000639341.1:c.268T>G
ENST00000639770.1:c.781T>G	ENSP00000491999.1:n.781T>G
ENST00000640390.1:n.673T>G
ENST00000640469.1:c.107T>G	ENSP00000491875.1:p.Leu36Arg
ENST00000640560.1:n.519T>G
ENST00000640893.1:c.*141T>G	ENSP00000492677.1:n.*141T>G
ENST00000262493.10:c.743T>G	ENSP00000262493.6:p.Leu248Arg
ENST00000568375.1:n.116-3463T>G
NM_020988.2:c.743T>G	NP_066268.1:p.Leu248Arg
XM_011523003.1:c.617T>G	XP_011521305.1:p.Leu206Arg
XM_011523003.3:c.617T>G	XP_011521305.1:p.Leu206Arg
NM_020988.3:c.743T>G MANE Select	NP_066268.1:p.Leu248Arg