Canonical Allele Identifier: CA395954787

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385384A>T (hg19) ; chr16:g.56351472A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351472A>T , CM000678.2:g.56351472A>T	GRCh38
NC_000016.9:g.56385384A>T , CM000678.1:g.56385384A>T	GRCh37
NC_000016.8:g.54942885A>T	NCBI36
NG_042800.1:g.165134A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.812A>T MANE Select	ENSP00000262493.6:p.Lys271Met
ENST00000562316.6:c.479A>T	ENSP00000457238.2:p.Lys160Met
ENST00000564727.2:c.116A>T	ENSP00000454971.2:p.Lys39Met
ENST00000568375.2:c.116-3394A>T
ENST00000638185.1:n.1027A>T
ENST00000638210.1:n.1112A>T
ENST00000638705.1:c.812A>T	ENSP00000491223.1:p.Lys271Met
ENST00000638836.1:n.722A>T
ENST00000639055.1:n.1533A>T
ENST00000639251.1:n.713A>T
ENST00000639268.1:c.447A>T
ENST00000639341.1:c.337A>T
ENST00000639770.1:c.850A>T	ENSP00000491999.1:n.850A>T
ENST00000640390.1:n.742A>T
ENST00000640469.1:c.176A>T	ENSP00000491875.1:p.Lys59Met
ENST00000640560.1:n.588A>T
ENST00000640893.1:c.*210A>T	ENSP00000492677.1:n.*210A>T
ENST00000262493.10:c.812A>T	ENSP00000262493.6:p.Lys271Met
ENST00000564727.1:c.32A>T	ENSP00000454971.1:p.Lys11Met
ENST00000568375.1:n.116-3394A>T
NM_020988.2:c.812A>T	NP_066268.1:p.Lys271Met
XM_011523003.1:c.686A>T	XP_011521305.1:p.Lys229Met
XM_011523003.3:c.686A>T	XP_011521305.1:p.Lys229Met
NM_020988.3:c.812A>T MANE Select	NP_066268.1:p.Lys271Met