Canonical Allele Identifier: CA347280343

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 529398
• ClinVar RCV Id: RCV000634810 ; RCV000760588
• dbSNP Id: rs750136202
• gnomAD v4: 2-73451724-C-T
• MyVariant Identifiers: chr2:g.73678851C>T (hg19) ; chr2:g.73451724C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73451724C>T , CM000664.2:g.73451724C>T	GRCh38
NC_000002.11:g.73678851C>T , CM000664.1:g.73678851C>T	GRCh37
NC_000002.10:g.73532359C>T	NCBI36
NG_011690.1:g.70972C>T , LRG_741:g.70972C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.4816C>T	ENSP00000507671.1:p.Gln1606Ter
ENST00000682801.1:c.4816C>T	ENSP00000507862.1:p.Gln1606Ter
ENST00000682859.1:c.4816C>T	ENSP00000508222.1:p.Gln1606Ter
ENST00000683791.1:c.685+19433C>T
ENST00000684197.1:n.166C>T
ENST00000684460.1:c.2268C>T
ENST00000684548.1:c.4816C>T	ENSP00000507421.1:p.Gln1606Ter
ENST00000684656.1:c.2268C>T
ENST00000613296.6:c.5197C>T MANE Select	ENSP00000482968.1:p.Gln1733Ter
ENST00000423048.5:c.28C>T	ENSP00000399833.1:p.Gln10Ter
ENST00000484298.5:c.5071C>T	ENSP00000478155.1:p.Gln1691Ter
ENST00000613296.4:c.5197C>T	ENSP00000482968.1:p.Gln1733Ter
ENST00000614410.4:c.5197C>T	ENSP00000479094.1:p.Gln1733Ter
NM_015120.4:c.5200C>T , LRG_741t1:c.5200C>T	NP_055935.4:p.Gln1734Ter
NM_001378454.1:c.5197C>T MANE Select	NP_001365383.1:p.Gln1733Ter