Canonical Allele Identifier: CA252958
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3975
ClinVar RCV Id: RCV000004181
dbSNP Id: rs193919340
gnomAD v2: 2-73717247-C-T
gnomAD v4: 2-73490120-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73490120C>T , CM000664.2:g.73490120C>T GRCh38
NC_000002.11:g.73717247C>T , CM000664.1:g.73717247C>T GRCh37
NC_000002.10:g.73570755C>T NCBI36
NG_011690.1:g.109368C>T , LRG_741:g.109368C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682565.1:c.7780C>T ENSP00000507671.1:p.Arg2594Ter
ENST00000682801.1:c.7780C>T ENSP00000507862.1:p.Arg2594Ter
ENST00000682859.1:c.7780C>T ENSP00000508222.1:p.Arg2594Ter
ENST00000683791.1:c.1172C>T
ENST00000684460.1:c.5232C>T
ENST00000684548.1:c.7780C>T ENSP00000507421.1:p.Arg2594Ter
ENST00000684590.1:c.2227C>T ENSP00000507376.1:p.Arg743Ter
ENST00000684656.1:c.5232C>T
ENST00000613296.6:c.8161C>T MANE Select ENSP00000482968.1:p.Arg2721Ter
ENST00000651434.1:c.896-29655C>T
ENST00000423048.5:c.2992C>T ENSP00000399833.1:p.Arg998Ter
ENST00000484298.5:c.8035C>T ENSP00000478155.1:p.Arg2679Ter
ENST00000613296.4:c.8161C>T ENSP00000482968.1:p.Arg2721Ter
ENST00000614410.4:c.8161C>T ENSP00000479094.1:p.Arg2721Ter
ENST00000620466.4:n.1964C>T
NM_015120.4:c.8164C>T , LRG_741t1:c.8164C>T NP_055935.4:p.Arg2722Ter
NM_001378454.1:c.8161C>T MANE Select NP_001365383.1:p.Arg2721Ter