Canonical Allele Identifier: CA427000864

Gene: ALMS1

Linked Data

• dbSNP Id: rs1253476068
• gnomAD v3: 2-73490077-A-G
• gnomAD v4: 2-73490077-A-G
• MyVariant Identifiers: chr2:g.73717204A>G (hg19) ; chr2:g.73490077A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490077A>G , CM000664.2:g.73490077A>G	GRCh38
NC_000002.11:g.73717204A>G , CM000664.1:g.73717204A>G	GRCh37
NC_000002.10:g.73570712A>G	NCBI36
NG_011690.1:g.109325A>G , LRG_741:g.109325A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7737A>G	ENSP00000507671.1:p.Glu2579=
ENST00000682801.1:c.7737A>G	ENSP00000507862.1:p.Glu2579=
ENST00000682859.1:c.7737A>G	ENSP00000508222.1:p.Glu2579=
ENST00000683791.1:c.1129A>G
ENST00000684460.1:c.5189A>G
ENST00000684548.1:c.7737A>G	ENSP00000507421.1:p.Glu2579=
ENST00000684590.1:c.2184A>G	ENSP00000507376.1:p.Glu728=
ENST00000684656.1:c.5189A>G
ENST00000613296.6:c.8118A>G MANE Select	ENSP00000482968.1:p.Glu2706=
ENST00000651434.1:c.896-29698A>G
ENST00000423048.5:c.2949A>G	ENSP00000399833.1:p.Glu983=
ENST00000484298.5:c.7992A>G	ENSP00000478155.1:p.Glu2664=
ENST00000613296.4:c.8118A>G	ENSP00000482968.1:p.Glu2706=
ENST00000614410.4:c.8118A>G	ENSP00000479094.1:p.Glu2706=
ENST00000620466.4:n.1921A>G
NM_015120.4:c.8121A>G , LRG_741t1:c.8121A>G	NP_055935.4:p.Glu2707=
NM_001378454.1:c.8118A>G MANE Select	NP_001365383.1:p.Glu2706=