Canonical Allele Identifier: CA50377874

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2150212
• ClinVar RCV Id: RCV003071817
• dbSNP Id: rs200272824
• gnomAD v2: 2-73717114-G-A
• gnomAD v4: 2-73489987-G-A
• MyVariant Identifiers: chr2:g.73717114G>A (hg19) ; chr2:g.73489987G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489987G>A , CM000664.2:g.73489987G>A	GRCh38
NC_000002.11:g.73717114G>A , CM000664.1:g.73717114G>A	GRCh37
NC_000002.10:g.73570622G>A	NCBI36
NG_011690.1:g.109235G>A , LRG_741:g.109235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7647G>A	ENSP00000507671.1:p.Met2549Ile
ENST00000682801.1:c.7647G>A	ENSP00000507862.1:p.Met2549Ile
ENST00000682859.1:c.7647G>A	ENSP00000508222.1:p.Met2549Ile
ENST00000683791.1:c.1039G>A
ENST00000684460.1:c.5099G>A
ENST00000684548.1:c.7647G>A	ENSP00000507421.1:p.Met2549Ile
ENST00000684590.1:c.2094G>A	ENSP00000507376.1:p.Met698Ile
ENST00000684656.1:c.5099G>A
ENST00000613296.6:c.8028G>A MANE Select	ENSP00000482968.1:p.Met2676Ile
ENST00000651434.1:c.896-29788G>A
ENST00000423048.5:c.2859G>A	ENSP00000399833.1:p.Met953Ile
ENST00000484298.5:c.7902G>A	ENSP00000478155.1:p.Met2634Ile
ENST00000613296.4:c.8028G>A	ENSP00000482968.1:p.Met2676Ile
ENST00000614410.4:c.8028G>A	ENSP00000479094.1:p.Met2676Ile
ENST00000620466.4:n.1831G>A
NM_015120.4:c.8031G>A , LRG_741t1:c.8031G>A	NP_055935.4:p.Met2677Ile
NM_001378454.1:c.8028G>A MANE Select	NP_001365383.1:p.Met2676Ile