Canonical Allele Identifier: CA1714451
Gene: ALMS1 HGNC NCBI

Linked Data

dbSNP Id: rs751618181
gnomAD v2: 2-73717422-A-T
gnomAD v4: 2-73490295-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73490295A>T , CM000664.2:g.73490295A>T GRCh38
NC_000002.11:g.73717422A>T , CM000664.1:g.73717422A>T GRCh37
NC_000002.10:g.73570930A>T NCBI36
NG_011690.1:g.109543A>T , LRG_741:g.109543A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.7955A>T ENSP00000507671.1:p.Asn2652Ile
ENST00000682801.1:c.7955A>T ENSP00000507862.1:p.Asn2652Ile
ENST00000682859.1:c.7955A>T ENSP00000508222.1:p.Asn2652Ile
ENST00000683791.1:c.1347A>T
ENST00000684460.1:c.5407A>T
ENST00000684548.1:c.7955A>T ENSP00000507421.1:p.Asn2652Ile
ENST00000684590.1:c.2402A>T ENSP00000507376.1:p.Asn801Ile
ENST00000684656.1:c.5407A>T
ENST00000613296.6:c.8336A>T MANE Select ENSP00000482968.1:p.Asn2779Ile
ENST00000651434.1:c.896-29480A>T
ENST00000423048.5:c.3030+137A>T ENSP00000399833.1:n.3030+137A>T
ENST00000484298.5:c.8210A>T ENSP00000478155.1:p.Asn2737Ile
ENST00000613296.4:c.8336A>T ENSP00000482968.1:p.Asn2779Ile
ENST00000614410.4:c.8336A>T ENSP00000479094.1:p.Asn2779Ile
ENST00000620466.4:n.2139A>T
NM_015120.4:c.8339A>T , LRG_741t1:c.8339A>T NP_055935.4:p.Asn2780Ile
NM_001378454.1:c.8336A>T MANE Select NP_001365383.1:p.Asn2779Ile