Canonical Allele Identifier: CA236054

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 191115
• ClinVar RCV Id: RCV000171296 ; RCV002516556
• dbSNP Id: rs786205527
• MyVariant Identifiers: chr2:g.73828320A>T (hg19) ; chr2:g.73601193A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601193A>T , CM000664.2:g.73601193A>T	GRCh38
NC_000002.11:g.73828320A>T , CM000664.1:g.73828320A>T	GRCh37
NC_000002.10:g.73681828A>T	NCBI36
NG_011690.1:g.220441A>T , LRG_741:g.220441A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11492-2A>T	ENSP00000507671.1:n.11492-2A>T
ENST00000682801.1:c.11167-992A>T	ENSP00000507862.1:n.11167-992A>T
ENST00000682859.1:c.11492-2A>T	ENSP00000508222.1:n.11492-2A>T
ENST00000683791.1:c.4578-2A>T
ENST00000684460.1:c.8773-2A>T
ENST00000684548.1:c.11492-2A>T	ENSP00000507421.1:n.11492-2A>T
ENST00000684590.1:c.5939-2A>T	ENSP00000507376.1:n.5939-2A>T
ENST00000684656.1:c.8957-2A>T
ENST00000613296.6:c.11873-2A>T MANE Select	ENSP00000482968.1:n.11873-2A>T
ENST00000651057.1:c.2027-2A>T	ENSP00000498504.1:n.2027-2A>T
ENST00000651434.1:c.3229-2A>T
ENST00000651750.1:c.1260+312A>T
ENST00000652487.1:c.3044-2A>T
ENST00000464408.3:n.48-2A>T
ENST00000484298.5:c.11747-2A>T	ENSP00000478155.1:n.11747-2A>T
ENST00000613296.4:c.11873-2A>T	ENSP00000482968.1:n.11873-2A>T
ENST00000620466.4:n.5676-2A>T
NM_015120.4:c.11876-2A>T , LRG_741t1:c.11876-2A>T	NP_055935.4:n.11876-2A>T
NM_001378454.1:c.11873-2A>T MANE Select	NP_001365383.1:n.11873-2A>T