Canonical Allele Identifier: CA1715361

Gene: ALMS1

Linked Data

• dbSNP Id: rs781603387
• ExAC: 2:73828298 C / G
• gnomAD v2: 2-73828298-C-G
• gnomAD v4: 2-73601171-C-G
• MyVariant Identifiers: chr2:g.73828298C>G (hg19) ; chr2:g.73601171C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601171C>G , CM000664.2:g.73601171C>G	GRCh38
NC_000002.11:g.73828298C>G , CM000664.1:g.73828298C>G	GRCh37
NC_000002.10:g.73681806C>G	NCBI36
NG_011690.1:g.220419C>G , LRG_741:g.220419C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11492-24C>G	ENSP00000507671.1:n.11492-24C>G
ENST00000682801.1:c.11167-1014C>G	ENSP00000507862.1:n.11167-1014C>G
ENST00000682859.1:c.11492-24C>G	ENSP00000508222.1:n.11492-24C>G
ENST00000683791.1:c.4578-24C>G
ENST00000684460.1:c.8773-24C>G
ENST00000684548.1:c.11492-24C>G	ENSP00000507421.1:n.11492-24C>G
ENST00000684590.1:c.5939-24C>G	ENSP00000507376.1:n.5939-24C>G
ENST00000684656.1:c.8957-24C>G
ENST00000613296.6:c.11873-24C>G MANE Select	ENSP00000482968.1:n.11873-24C>G
ENST00000651057.1:c.2027-24C>G	ENSP00000498504.1:n.2027-24C>G
ENST00000651434.1:c.3229-24C>G
ENST00000651750.1:c.1260+290C>G
ENST00000652487.1:c.3044-24C>G
ENST00000464408.3:n.48-24C>G
ENST00000484298.5:c.11747-24C>G	ENSP00000478155.1:n.11747-24C>G
ENST00000613296.4:c.11873-24C>G	ENSP00000482968.1:n.11873-24C>G
ENST00000620466.4:n.5676-24C>G
NM_015120.4:c.11876-24C>G , LRG_741t1:c.11876-24C>G	NP_055935.4:n.11876-24C>G
NM_001378454.1:c.11873-24C>G MANE Select	NP_001365383.1:n.11873-24C>G