Canonical Allele Identifier: CA347286010

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 434136
• ClinVar RCV Id: RCV000503366 ; RCV001576245 ; RCV003222006
• dbSNP Id: rs1473611414
• gnomAD v2: 2-73799886-C-T
• gnomAD v4: 2-73572759-C-T
• MyVariant Identifiers: chr2:g.73799886C>T (hg19) ; chr2:g.73572759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572759C>T , CM000664.2:g.73572759C>T	GRCh38
NC_000002.11:g.73799886C>T , CM000664.1:g.73799886C>T	GRCh37
NC_000002.10:g.73653394C>T	NCBI36
NG_011690.1:g.192007C>T , LRG_741:g.192007C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10501C>T	ENSP00000507671.1:p.Arg3501Ter
ENST00000682801.1:c.10501C>T	ENSP00000507862.1:p.Arg3501Ter
ENST00000682859.1:c.10501C>T	ENSP00000508222.1:p.Arg3501Ter
ENST00000683791.1:c.3587C>T
ENST00000684460.1:c.7782C>T
ENST00000684548.1:c.10501C>T	ENSP00000507421.1:p.Arg3501Ter
ENST00000684590.1:c.4948C>T	ENSP00000507376.1:p.Arg1650Ter
ENST00000684656.1:c.7827C>T
ENST00000613296.6:c.10882C>T MANE Select	ENSP00000482968.1:p.Arg3628Ter
ENST00000651057.1:c.1036C>T	ENSP00000498504.1:p.Arg346Ter
ENST00000651434.1:c.2238C>T
ENST00000651750.1:c.270C>T
ENST00000652487.1:c.1979C>T
ENST00000423048.5:c.4373C>T	ENSP00000399833.1:n.4373C>T
ENST00000484298.5:c.10756C>T	ENSP00000478155.1:p.Arg3586Ter
ENST00000613296.4:c.10882C>T	ENSP00000482968.1:p.Arg3628Ter
ENST00000614410.4:c.10882C>T	ENSP00000479094.1:p.Arg3628Ter
ENST00000620466.4:n.4685C>T
NM_015120.4:c.10885C>T , LRG_741t1:c.10885C>T	NP_055935.4:p.Arg3629Ter
NM_001378454.1:c.10882C>T MANE Select	NP_001365383.1:p.Arg3628Ter