Canonical Allele Identifier: CA50377816

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1761624
• ClinVar RCV Id: RCV002419197
• dbSNP Id: rs747268891
• gnomAD v2: 2-73717092-G-A
• gnomAD v3: 2-73489965-G-A
• gnomAD v4: 2-73489965-G-A
• MyVariant Identifiers: chr2:g.73717092G>A (hg19) ; chr2:g.73489965G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489965G>A , CM000664.2:g.73489965G>A	GRCh38
NC_000002.11:g.73717092G>A , CM000664.1:g.73717092G>A	GRCh37
NC_000002.10:g.73570600G>A	NCBI36
NG_011690.1:g.109213G>A , LRG_741:g.109213G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7625G>A	ENSP00000507671.1:p.Arg2542Gln
ENST00000682801.1:c.7625G>A	ENSP00000507862.1:p.Arg2542Gln
ENST00000682859.1:c.7625G>A	ENSP00000508222.1:p.Arg2542Gln
ENST00000683791.1:c.1017G>A
ENST00000684460.1:c.5077G>A
ENST00000684548.1:c.7625G>A	ENSP00000507421.1:p.Arg2542Gln
ENST00000684590.1:c.2072G>A	ENSP00000507376.1:p.Arg691Gln
ENST00000684656.1:c.5077G>A
ENST00000613296.6:c.8006G>A MANE Select	ENSP00000482968.1:p.Arg2669Gln
ENST00000651434.1:c.896-29810G>A
ENST00000423048.5:c.2837G>A	ENSP00000399833.1:p.Arg946Gln
ENST00000484298.5:c.7880G>A	ENSP00000478155.1:p.Arg2627Gln
ENST00000613296.4:c.8006G>A	ENSP00000482968.1:p.Arg2669Gln
ENST00000614410.4:c.8006G>A	ENSP00000479094.1:p.Arg2669Gln
ENST00000620466.4:n.1809G>A
NM_015120.4:c.8009G>A , LRG_741t1:c.8009G>A	NP_055935.4:p.Arg2670Gln
NM_001378454.1:c.8006G>A MANE Select	NP_001365383.1:p.Arg2669Gln