Canonical Allele Identifier: CA1715399

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 337035
• ClinVar RCV Id: RCV000282897 ; RCV003401358
• dbSNP Id: rs767061718
• ExAC: 2:73828447 C / T
• gnomAD v2: 2-73828447-C-T
• gnomAD v4: 2-73601320-C-T
• MyVariant Identifiers: chr2:g.73828447C>T (hg19) ; chr2:g.73601320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601320C>T , CM000664.2:g.73601320C>T	GRCh38
NC_000002.11:g.73828447C>T , CM000664.1:g.73828447C>T	GRCh37
NC_000002.10:g.73681955C>T	NCBI36
NG_011690.1:g.220568C>T , LRG_741:g.220568C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11617C>T	ENSP00000507671.1:p.Pro3873Ser
ENST00000682801.1:c.11167-865C>T	ENSP00000507862.1:n.11167-865C>T
ENST00000682859.1:c.11617C>T	ENSP00000508222.1:p.Pro3873Ser
ENST00000683791.1:c.4703C>T
ENST00000684460.1:c.8898C>T
ENST00000684548.1:c.11617C>T	ENSP00000507421.1:p.Pro3873Ser
ENST00000684590.1:c.6064C>T	ENSP00000507376.1:p.Pro2022Ser
ENST00000684656.1:c.9082C>T
ENST00000613296.6:c.11998C>T MANE Select	ENSP00000482968.1:p.Pro4000Ser
ENST00000651057.1:c.2152C>T	ENSP00000498504.1:p.Pro718Ser
ENST00000651434.1:c.3354C>T
ENST00000651750.1:c.1260+439C>T
ENST00000652487.1:c.3169C>T
ENST00000464408.3:n.173C>T
ENST00000484298.5:c.11872C>T	ENSP00000478155.1:p.Pro3958Ser
ENST00000613296.4:c.11998C>T	ENSP00000482968.1:p.Pro4000Ser
ENST00000620466.4:n.5801C>T
NM_015120.4:c.12001C>T , LRG_741t1:c.12001C>T	NP_055935.4:p.Pro4001Ser
NM_001378454.1:c.11998C>T MANE Select	NP_001365383.1:p.Pro4000Ser