Canonical Allele Identifier: CA1715100

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2203103
• ClinVar RCV Id: RCV002634379 ; RCV004072132
• dbSNP Id: rs773750204
• ExAC: 2:73800006 C / T
• gnomAD v2: 2-73800006-C-T
• gnomAD v4: 2-73572879-C-T
• MyVariant Identifiers: chr2:g.73800006C>T (hg19) ; chr2:g.73572879C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572879C>T , CM000664.2:g.73572879C>T	GRCh38
NC_000002.11:g.73800006C>T , CM000664.1:g.73800006C>T	GRCh37
NC_000002.10:g.73653514C>T	NCBI36
NG_011690.1:g.192127C>T , LRG_741:g.192127C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10621C>T	ENSP00000507671.1:p.Gln3541Ter
ENST00000682801.1:c.10621C>T	ENSP00000507862.1:p.Gln3541Ter
ENST00000682859.1:c.10621C>T	ENSP00000508222.1:p.Gln3541Ter
ENST00000683791.1:c.3707C>T
ENST00000684460.1:c.7902C>T
ENST00000684548.1:c.10621C>T	ENSP00000507421.1:p.Gln3541Ter
ENST00000684590.1:c.5068C>T	ENSP00000507376.1:p.Gln1690Ter
ENST00000684656.1:c.7947C>T
ENST00000613296.6:c.11002C>T MANE Select	ENSP00000482968.1:p.Gln3668Ter
ENST00000651057.1:c.1156C>T	ENSP00000498504.1:p.Gln386Ter
ENST00000651434.1:c.2358C>T
ENST00000651750.1:c.390C>T
ENST00000652487.1:c.2099C>T
ENST00000423048.5:c.4493C>T	ENSP00000399833.1:n.4493C>T
ENST00000484298.5:c.10876C>T	ENSP00000478155.1:p.Gln3626Ter
ENST00000613296.4:c.11002C>T	ENSP00000482968.1:p.Gln3668Ter
ENST00000614410.4:c.11002C>T	ENSP00000479094.1:p.Gln3668Ter
ENST00000620466.4:n.4805C>T
NM_015120.4:c.11005C>T , LRG_741t1:c.11005C>T	NP_055935.4:p.Gln3669Ter
NM_001378454.1:c.11002C>T MANE Select	NP_001365383.1:p.Gln3668Ter