Canonical Allele Identifier: CA395954657

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385330C>T (hg19) ; chr16:g.56351418C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351418C>T , CM000678.2:g.56351418C>T	GRCh38
NC_000016.9:g.56385330C>T , CM000678.1:g.56385330C>T	GRCh37
NC_000016.8:g.54942831C>T	NCBI36
NG_042800.1:g.165080C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.758C>T MANE Select	ENSP00000262493.6:p.Ser253Phe
ENST00000562316.6:c.425C>T	ENSP00000457238.2:p.Ser142Phe
ENST00000564727.2:c.62C>T	ENSP00000454971.2:p.Ser21Phe
ENST00000568375.2:c.116-3448C>T
ENST00000638185.1:n.973C>T
ENST00000638210.1:n.1058C>T
ENST00000638705.1:c.758C>T	ENSP00000491223.1:p.Ser253Phe
ENST00000638836.1:n.668C>T
ENST00000639055.1:n.1479C>T
ENST00000639251.1:n.659C>T
ENST00000639268.1:c.393C>T
ENST00000639341.1:c.283C>T
ENST00000639770.1:c.796C>T	ENSP00000491999.1:n.796C>T
ENST00000640390.1:n.688C>T
ENST00000640469.1:c.122C>T	ENSP00000491875.1:p.Ser41Phe
ENST00000640560.1:n.534C>T
ENST00000640893.1:c.*156C>T	ENSP00000492677.1:n.*156C>T
ENST00000262493.10:c.758C>T	ENSP00000262493.6:p.Ser253Phe
ENST00000568375.1:n.116-3448C>T
NM_020988.2:c.758C>T	NP_066268.1:p.Ser253Phe
XM_011523003.1:c.632C>T	XP_011521305.1:p.Ser211Phe
XM_011523003.3:c.632C>T	XP_011521305.1:p.Ser211Phe
NM_020988.3:c.758C>T MANE Select	NP_066268.1:p.Ser253Phe