Canonical Allele Identifier: CA1715387

Gene: ALMS1

Linked Data

• dbSNP Id: rs772087135
• ExAC: 2:73828385 A / G
• gnomAD v2: 2-73828385-A-G
• gnomAD v4: 2-73601258-A-G
• MyVariant Identifiers: chr2:g.73828385A>G (hg19) ; chr2:g.73601258A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601258A>G , CM000664.2:g.73601258A>G	GRCh38
NC_000002.11:g.73828385A>G , CM000664.1:g.73828385A>G	GRCh37
NC_000002.10:g.73681893A>G	NCBI36
NG_011690.1:g.220506A>G , LRG_741:g.220506A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11555A>G	ENSP00000507671.1:p.Asn3852Ser
ENST00000682801.1:c.11167-927A>G	ENSP00000507862.1:n.11167-927A>G
ENST00000682859.1:c.11555A>G	ENSP00000508222.1:p.Asn3852Ser
ENST00000683791.1:c.4641A>G
ENST00000684460.1:c.8836A>G
ENST00000684548.1:c.11555A>G	ENSP00000507421.1:p.Asn3852Ser
ENST00000684590.1:c.6002A>G	ENSP00000507376.1:p.Asn2001Ser
ENST00000684656.1:c.9020A>G
ENST00000613296.6:c.11936A>G MANE Select	ENSP00000482968.1:p.Asn3979Ser
ENST00000651057.1:c.2090A>G	ENSP00000498504.1:p.Asn697Ser
ENST00000651434.1:c.3292A>G
ENST00000651750.1:c.1260+377A>G
ENST00000652487.1:c.3107A>G
ENST00000464408.3:n.111A>G
ENST00000484298.5:c.11810A>G	ENSP00000478155.1:p.Asn3937Ser
ENST00000613296.4:c.11936A>G	ENSP00000482968.1:p.Asn3979Ser
ENST00000620466.4:n.5739A>G
NM_015120.4:c.11939A>G , LRG_741t1:c.11939A>G	NP_055935.4:p.Asn3980Ser
NM_001378454.1:c.11936A>G MANE Select	NP_001365383.1:p.Asn3979Ser