Canonical Allele Identifier: CA240750

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 194660
• ClinVar RCV Id: RCV000175083 ; RCV000634776 ; RCV002426835
• dbSNP Id: rs549757247
• ExAC: 2:73800021 C / A
• gnomAD v2: 2-73800021-C-A
• gnomAD v3: 2-73572894-C-A
• gnomAD v4: 2-73572894-C-A
• MyVariant Identifiers: chr2:g.73800021C>A (hg19) ; chr2:g.73572894C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572894C>A , CM000664.2:g.73572894C>A	GRCh38
NC_000002.11:g.73800021C>A , CM000664.1:g.73800021C>A	GRCh37
NC_000002.10:g.73653529C>A	NCBI36
NG_011690.1:g.192142C>A , LRG_741:g.192142C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10636C>A	ENSP00000507671.1:p.Leu3546Ile
ENST00000682801.1:c.10636C>A	ENSP00000507862.1:p.Leu3546Ile
ENST00000682859.1:c.10636C>A	ENSP00000508222.1:p.Leu3546Ile
ENST00000683791.1:c.3722C>A
ENST00000684460.1:c.7917C>A
ENST00000684548.1:c.10636C>A	ENSP00000507421.1:p.Leu3546Ile
ENST00000684590.1:c.5083C>A	ENSP00000507376.1:p.Leu1695Ile
ENST00000684656.1:c.7962C>A
ENST00000613296.6:c.11017C>A MANE Select	ENSP00000482968.1:p.Leu3673Ile
ENST00000651057.1:c.1171C>A	ENSP00000498504.1:p.Leu391Ile
ENST00000651434.1:c.2373C>A
ENST00000651750.1:c.405C>A
ENST00000652487.1:c.2114C>A
ENST00000423048.5:c.4508C>A	ENSP00000399833.1:n.4508C>A
ENST00000484298.5:c.10891C>A	ENSP00000478155.1:p.Leu3631Ile
ENST00000613296.4:c.11017C>A	ENSP00000482968.1:p.Leu3673Ile
ENST00000614410.4:c.11017C>A	ENSP00000479094.1:p.Leu3673Ile
ENST00000620466.4:n.4820C>A
NM_015120.4:c.11020C>A , LRG_741t1:c.11020C>A	NP_055935.4:p.Leu3674Ile
NM_001378454.1:c.11017C>A MANE Select	NP_001365383.1:p.Leu3673Ile