Canonical Allele Identifier: CA395954797

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385388A>T (hg19) ; chr16:g.56351476A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351476A>T , CM000678.2:g.56351476A>T	GRCh38
NC_000016.9:g.56385388A>T , CM000678.1:g.56385388A>T	GRCh37
NC_000016.8:g.54942889A>T	NCBI36
NG_042800.1:g.165138A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.816A>T MANE Select	ENSP00000262493.6:p.Lys272Asn
ENST00000562316.6:c.483A>T	ENSP00000457238.2:p.Lys161Asn
ENST00000564727.2:c.120A>T	ENSP00000454971.2:p.Lys40Asn
ENST00000568375.2:c.116-3390A>T
ENST00000638185.1:n.1031A>T
ENST00000638210.1:n.1116A>T
ENST00000638705.1:c.816A>T	ENSP00000491223.1:p.Lys272Asn
ENST00000638836.1:n.726A>T
ENST00000639055.1:n.1537A>T
ENST00000639251.1:n.717A>T
ENST00000639268.1:c.451A>T
ENST00000639341.1:c.341A>T
ENST00000639770.1:c.854A>T	ENSP00000491999.1:n.854A>T
ENST00000640390.1:n.746A>T
ENST00000640469.1:c.180A>T	ENSP00000491875.1:p.Lys60Asn
ENST00000640560.1:n.592A>T
ENST00000640893.1:c.*214A>T	ENSP00000492677.1:n.*214A>T
ENST00000262493.10:c.816A>T	ENSP00000262493.6:p.Lys272Asn
ENST00000564727.1:c.36A>T	ENSP00000454971.1:p.Lys12Asn
ENST00000568375.1:n.116-3390A>T
NM_020988.2:c.816A>T	NP_066268.1:p.Lys272Asn
XM_011523003.1:c.690A>T	XP_011521305.1:p.Lys230Asn
XM_011523003.3:c.690A>T	XP_011521305.1:p.Lys230Asn
NM_020988.3:c.816A>T MANE Select	NP_066268.1:p.Lys272Asn