Canonical Allele Identifier: CA347287003

Gene: ALMS1

Linked Data

• dbSNP Id: rs1481716922
• gnomAD v2: 2-73800034-A-G
• gnomAD v4: 2-73572907-A-G
• MyVariant Identifiers: chr2:g.73800034A>G (hg19) ; chr2:g.73572907A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572907A>G , CM000664.2:g.73572907A>G	GRCh38
NC_000002.11:g.73800034A>G , CM000664.1:g.73800034A>G	GRCh37
NC_000002.10:g.73653542A>G	NCBI36
NG_011690.1:g.192155A>G , LRG_741:g.192155A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10649A>G	ENSP00000507671.1:p.Lys3550Arg
ENST00000682801.1:c.10649A>G	ENSP00000507862.1:p.Lys3550Arg
ENST00000682859.1:c.10649A>G	ENSP00000508222.1:p.Lys3550Arg
ENST00000683791.1:c.3735A>G
ENST00000684460.1:c.7930A>G
ENST00000684548.1:c.10649A>G	ENSP00000507421.1:p.Lys3550Arg
ENST00000684590.1:c.5096A>G	ENSP00000507376.1:p.Lys1699Arg
ENST00000684656.1:c.7975A>G
ENST00000613296.6:c.11030A>G MANE Select	ENSP00000482968.1:p.Lys3677Arg
ENST00000651057.1:c.1184A>G	ENSP00000498504.1:p.Lys395Arg
ENST00000651434.1:c.2386A>G
ENST00000651750.1:c.418A>G
ENST00000652487.1:c.2127A>G
ENST00000423048.5:c.4521A>G	ENSP00000399833.1:n.4521A>G
ENST00000484298.5:c.10904A>G	ENSP00000478155.1:p.Lys3635Arg
ENST00000613296.4:c.11030A>G	ENSP00000482968.1:p.Lys3677Arg
ENST00000614410.4:c.11030A>G	ENSP00000479094.1:p.Lys3677Arg
ENST00000620466.4:n.4833A>G
NM_015120.4:c.11033A>G , LRG_741t1:c.11033A>G	NP_055935.4:p.Lys3678Arg
NM_001378454.1:c.11030A>G MANE Select	NP_001365383.1:p.Lys3677Arg