Canonical Allele Identifier: CA347267152

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2497334
• ClinVar RCV Id: RCV003213789 ; RCV003396954
• dbSNP Id: rs1675685275
• gnomAD v3: 2-73601419-G-A
• gnomAD v4: 2-73601419-G-A
• MyVariant Identifiers: chr2:g.73828546G>A (hg19) ; chr2:g.73601419G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601419G>A , CM000664.2:g.73601419G>A	GRCh38
NC_000002.11:g.73828546G>A , CM000664.1:g.73828546G>A	GRCh37
NC_000002.10:g.73682054G>A	NCBI36
NG_011690.1:g.220667G>A , LRG_741:g.220667G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11716G>A	ENSP00000507671.1:p.Val3906Met
ENST00000682801.1:c.11167-766G>A	ENSP00000507862.1:n.11167-766G>A
ENST00000682859.1:c.11716G>A	ENSP00000508222.1:p.Val3906Met
ENST00000683791.1:c.4802G>A
ENST00000684460.1:c.8997G>A
ENST00000684548.1:c.11716G>A	ENSP00000507421.1:p.Val3906Met
ENST00000684590.1:c.6163G>A	ENSP00000507376.1:p.Val2055Met
ENST00000684656.1:c.9181G>A
ENST00000613296.6:c.12097G>A MANE Select	ENSP00000482968.1:p.Val4033Met
ENST00000651057.1:c.2251G>A	ENSP00000498504.1:p.Val751Met
ENST00000651434.1:c.3453G>A
ENST00000651750.1:c.1260+538G>A
ENST00000652487.1:c.3268G>A
ENST00000464408.3:n.272G>A
ENST00000484298.5:c.11971G>A	ENSP00000478155.1:p.Val3991Met
ENST00000613296.4:c.12097G>A	ENSP00000482968.1:p.Val4033Met
ENST00000620466.4:n.5900G>A
NM_015120.4:c.12100G>A , LRG_741t1:c.12100G>A	NP_055935.4:p.Val4034Met
NM_001378454.1:c.12097G>A MANE Select	NP_001365383.1:p.Val4033Met