Canonical Allele Identifier: CA1032223834

Gene: ALMS1

Linked Data

• dbSNP Id: rs1437509501
• gnomAD v3: 2-73601123-C-T
• gnomAD v4: 2-73601123-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601123C>T , CM000664.2:g.73601123C>T	GRCh38
NC_000002.11:g.73828250C>T , CM000664.1:g.73828250C>T	GRCh37
NC_000002.10:g.73681758C>T	NCBI36
NG_011690.1:g.220371C>T , LRG_741:g.220371C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11492-72C>T	ENSP00000507671.1:n.11492-72C>T
ENST00000682801.1:c.11167-1062C>T	ENSP00000507862.1:n.11167-1062C>T
ENST00000682859.1:c.11492-72C>T	ENSP00000508222.1:n.11492-72C>T
ENST00000683791.1:c.4578-72C>T
ENST00000684460.1:c.8773-72C>T
ENST00000684548.1:c.11492-72C>T	ENSP00000507421.1:n.11492-72C>T
ENST00000684590.1:c.5939-72C>T	ENSP00000507376.1:n.5939-72C>T
ENST00000684656.1:c.8957-72C>T
ENST00000613296.6:c.11873-72C>T MANE Select	ENSP00000482968.1:n.11873-72C>T
ENST00000651057.1:c.2027-72C>T	ENSP00000498504.1:n.2027-72C>T
ENST00000651434.1:c.3229-72C>T
ENST00000651750.1:c.1260+242C>T
ENST00000652487.1:c.3044-72C>T
ENST00000464408.3:n.48-72C>T
ENST00000484298.5:c.11747-72C>T	ENSP00000478155.1:n.11747-72C>T
ENST00000613296.4:c.11873-72C>T	ENSP00000482968.1:n.11873-72C>T
ENST00000620466.4:n.5676-72C>T
NM_015120.4:c.11876-72C>T , LRG_741t1:c.11876-72C>T	NP_055935.4:n.11876-72C>T
NM_001378454.1:c.11873-72C>T MANE Select	NP_001365383.1:n.11873-72C>T