Canonical Allele Identifier: CA1714338

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1435483
• ClinVar RCV Id: RCV001972287 ; RCV002407121
• dbSNP Id: rs776783409
• ExAC: 2:73716836 A / G
• gnomAD v2: 2-73716836-A-G
• gnomAD v4: 2-73489709-A-G
• MyVariant Identifiers: chr2:g.73716836A>G (hg19) ; chr2:g.73489709A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489709A>G , CM000664.2:g.73489709A>G	GRCh38
NC_000002.11:g.73716836A>G , CM000664.1:g.73716836A>G	GRCh37
NC_000002.10:g.73570344A>G	NCBI36
NG_011690.1:g.108957A>G , LRG_741:g.108957A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7369A>G	ENSP00000507671.1:p.Lys2457Glu
ENST00000682801.1:c.7369A>G	ENSP00000507862.1:p.Lys2457Glu
ENST00000682859.1:c.7369A>G	ENSP00000508222.1:p.Lys2457Glu
ENST00000683791.1:c.761A>G
ENST00000684460.1:c.4821A>G
ENST00000684548.1:c.7369A>G	ENSP00000507421.1:p.Lys2457Glu
ENST00000684590.1:c.1816A>G	ENSP00000507376.1:p.Lys606Glu
ENST00000684656.1:c.4821A>G
ENST00000613296.6:c.7750A>G MANE Select	ENSP00000482968.1:p.Lys2584Glu
ENST00000651434.1:c.896-30066A>G
ENST00000423048.5:c.2581A>G	ENSP00000399833.1:p.Lys861Glu
ENST00000484298.5:c.7624A>G	ENSP00000478155.1:p.Lys2542Glu
ENST00000613296.4:c.7750A>G	ENSP00000482968.1:p.Lys2584Glu
ENST00000614410.4:c.7750A>G	ENSP00000479094.1:p.Lys2584Glu
ENST00000620466.4:n.1553A>G
NM_015120.4:c.7753A>G , LRG_741t1:c.7753A>G	NP_055935.4:p.Lys2585Glu
NM_001378454.1:c.7750A>G MANE Select	NP_001365383.1:p.Lys2584Glu