Canonical Allele Identifier: CA10613939

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 337008
• ClinVar RCV Id: RCV000266927 ; RCV003912419
• dbSNP Id: rs886056297
• MyVariant Identifiers: chr2:g.73653607G>A (hg19) ; chr2:g.73426479G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73426479G>A , CM000664.2:g.73426479G>A	GRCh38
NC_000002.11:g.73653607G>A , CM000664.1:g.73653607G>A	GRCh37
NC_000002.10:g.73507115G>A	NCBI36
NG_011690.1:g.45725G>A , LRG_741:g.45725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.814G>A	ENSP00000507671.1:p.Asp272Asn
ENST00000682801.1:c.814G>A	ENSP00000507862.1:p.Asp272Asn
ENST00000682859.1:c.814G>A	ENSP00000508222.1:p.Asp272Asn
ENST00000682889.1:n.1229G>A
ENST00000683791.1:c.591+1577G>A
ENST00000684548.1:c.814G>A	ENSP00000507421.1:p.Asp272Asn
ENST00000613296.6:c.1264G>A MANE Select	ENSP00000482968.1:p.Asp422Asn
ENST00000484298.5:c.1138G>A	ENSP00000478155.1:p.Asp380Asn
ENST00000613296.4:c.1264G>A	ENSP00000482968.1:p.Asp422Asn
ENST00000614410.4:c.1264G>A	ENSP00000479094.1:p.Asp422Asn
NM_015120.4:c.1267G>A , LRG_741t1:c.1267G>A	NP_055935.4:p.Asp423Asn
NM_001378454.1:c.1264G>A MANE Select	NP_001365383.1:p.Asp422Asn