Canonical Allele Identifier: CA347267187

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1442420
• ClinVar RCV Id: RCV002280196 ; RCV001969849
• dbSNP Id: rs1269143077
• gnomAD v2: 2-73717143-C-T
• gnomAD v4: 2-73490016-C-T
• MyVariant Identifiers: chr2:g.73717143C>T (hg19) ; chr2:g.73490016C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490016C>T , CM000664.2:g.73490016C>T	GRCh38
NC_000002.11:g.73717143C>T , CM000664.1:g.73717143C>T	GRCh37
NC_000002.10:g.73570651C>T	NCBI36
NG_011690.1:g.109264C>T , LRG_741:g.109264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7676C>T	ENSP00000507671.1:p.Pro2559Leu
ENST00000682801.1:c.7676C>T	ENSP00000507862.1:p.Pro2559Leu
ENST00000682859.1:c.7676C>T	ENSP00000508222.1:p.Pro2559Leu
ENST00000683791.1:c.1068C>T
ENST00000684460.1:c.5128C>T
ENST00000684548.1:c.7676C>T	ENSP00000507421.1:p.Pro2559Leu
ENST00000684590.1:c.2123C>T	ENSP00000507376.1:p.Pro708Leu
ENST00000684656.1:c.5128C>T
ENST00000613296.6:c.8057C>T MANE Select	ENSP00000482968.1:p.Pro2686Leu
ENST00000651434.1:c.896-29759C>T
ENST00000423048.5:c.2888C>T	ENSP00000399833.1:p.Pro963Leu
ENST00000484298.5:c.7931C>T	ENSP00000478155.1:p.Pro2644Leu
ENST00000613296.4:c.8057C>T	ENSP00000482968.1:p.Pro2686Leu
ENST00000614410.4:c.8057C>T	ENSP00000479094.1:p.Pro2686Leu
ENST00000620466.4:n.1860C>T
NM_015120.4:c.8060C>T , LRG_741t1:c.8060C>T	NP_055935.4:p.Pro2687Leu
NM_001378454.1:c.8057C>T MANE Select	NP_001365383.1:p.Pro2686Leu