Canonical Allele Identifier: CA50377170

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 677813
• ClinVar RCV Id: RCV000837376
• dbSNP Id: rs75510346
• gnomAD v2: 2-73716695-A-T
• gnomAD v3: 2-73489568-A-T
• gnomAD v4: 2-73489568-A-T
• MyVariant Identifiers: chr2:g.73716695A>T (hg19) ; chr2:g.73489568A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489568A>T , CM000664.2:g.73489568A>T	GRCh38
NC_000002.11:g.73716695A>T , CM000664.1:g.73716695A>T	GRCh37
NC_000002.10:g.73570203A>T	NCBI36
NG_011690.1:g.108816A>T , LRG_741:g.108816A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7294-66A>T	ENSP00000507671.1:n.7294-66A>T
ENST00000682801.1:c.7294-66A>T	ENSP00000507862.1:n.7294-66A>T
ENST00000682859.1:c.7294-66A>T	ENSP00000508222.1:n.7294-66A>T
ENST00000683791.1:c.686-66A>T
ENST00000684460.1:c.4746-66A>T
ENST00000684548.1:c.7294-66A>T	ENSP00000507421.1:n.7294-66A>T
ENST00000684590.1:c.1741-66A>T	ENSP00000507376.1:n.1741-66A>T
ENST00000684656.1:c.4746-66A>T
ENST00000613296.6:c.7675-66A>T MANE Select	ENSP00000482968.1:n.7675-66A>T
ENST00000651434.1:c.896-30207A>T
ENST00000423048.5:c.2506-66A>T	ENSP00000399833.1:n.2506-66A>T
ENST00000484298.5:c.7549-66A>T	ENSP00000478155.1:n.7549-66A>T
ENST00000613296.4:c.7675-66A>T	ENSP00000482968.1:n.7675-66A>T
ENST00000614410.4:c.7675-66A>T	ENSP00000479094.1:n.7675-66A>T
ENST00000620466.4:n.1478-66A>T
NM_015120.4:c.7678-66A>T , LRG_741t1:c.7678-66A>T	NP_055935.4:n.7678-66A>T
NM_001378454.1:c.7675-66A>T MANE Select	NP_001365383.1:n.7675-66A>T