Canonical Allele Identifier: CA892851362

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 3020275
• ClinVar RCV Id: RCV003877450
• dbSNP Id: rs1187292265
• MyVariant Identifiers: chr2:g.73784332A>T (hg19) ; chr2:g.73557205A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73557205A>T , CM000664.2:g.73557205A>T	GRCh38
NC_000002.11:g.73784332A>T , CM000664.1:g.73784332A>T	GRCh37
NC_000002.10:g.73637840A>T	NCBI36
NG_011690.1:g.176453A>T , LRG_741:g.176453A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.9698-15A>T	ENSP00000507671.1:n.9698-15A>T
ENST00000682801.1:c.9698-15A>T	ENSP00000507862.1:n.9698-15A>T
ENST00000682859.1:c.9698-15A>T	ENSP00000508222.1:n.9698-15A>T
ENST00000683791.1:c.3089+6768A>T
ENST00000684460.1:c.6979-15A>T
ENST00000684548.1:c.9698-15A>T	ENSP00000507421.1:n.9698-15A>T
ENST00000684590.1:c.4145-15A>T	ENSP00000507376.1:n.4145-15A>T
ENST00000684656.1:c.7024-15A>T
ENST00000613296.6:c.10079-15A>T MANE Select	ENSP00000482968.1:n.10079-15A>T
ENST00000651057.1:c.233-15A>T	ENSP00000498504.1:n.233-15A>T
ENST00000651434.1:c.1435-15A>T
ENST00000652487.1:c.1176-15A>T
ENST00000423048.5:c.3570-15A>T	ENSP00000399833.1:n.3570-15A>T
ENST00000476650.2:n.199-15A>T
ENST00000484298.5:c.9953-15A>T	ENSP00000478155.1:n.9953-15A>T
ENST00000613296.4:c.10079-15A>T	ENSP00000482968.1:n.10079-15A>T
ENST00000614410.4:c.10079-15A>T	ENSP00000479094.1:n.10079-15A>T
ENST00000620466.4:n.3882-15A>T
NM_015120.4:c.10082-15A>T , LRG_741t1:c.10082-15A>T	NP_055935.4:n.10082-15A>T
NM_001378454.1:c.10079-15A>T MANE Select	NP_001365383.1:n.10079-15A>T