Canonical Allele Identifier: CA347280118

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 488175
• ClinVar RCV Id: RCV000578023
• dbSNP Id: rs773513360
• MyVariant Identifiers: chr2:g.73678797A>T (hg19) ; chr2:g.73451670A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73451670A>T , CM000664.2:g.73451670A>T	GRCh38
NC_000002.11:g.73678797A>T , CM000664.1:g.73678797A>T	GRCh37
NC_000002.10:g.73532305A>T	NCBI36
NG_011690.1:g.70918A>T , LRG_741:g.70918A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.4762A>T	ENSP00000507671.1:p.Arg1588Ter
ENST00000682801.1:c.4762A>T	ENSP00000507862.1:p.Arg1588Ter
ENST00000682859.1:c.4762A>T	ENSP00000508222.1:p.Arg1588Ter
ENST00000683791.1:c.685+19379A>T
ENST00000684197.1:n.112A>T
ENST00000684460.1:c.2214A>T
ENST00000684548.1:c.4762A>T	ENSP00000507421.1:p.Arg1588Ter
ENST00000684656.1:c.2214A>T
ENST00000613296.6:c.5143A>T MANE Select	ENSP00000482968.1:p.Arg1715Ter
ENST00000484298.5:c.5017A>T	ENSP00000478155.1:p.Arg1673Ter
ENST00000613296.4:c.5143A>T	ENSP00000482968.1:p.Arg1715Ter
ENST00000614410.4:c.5143A>T	ENSP00000479094.1:p.Arg1715Ter
NM_015120.4:c.5146A>T , LRG_741t1:c.5146A>T	NP_055935.4:p.Arg1716Ter
NM_001378454.1:c.5143A>T MANE Select	NP_001365383.1:p.Arg1715Ter