Canonical Allele Identifier: CA1714384

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 695245
• ClinVar RCV Id: RCV000860660 ; RCV002415974
• dbSNP Id: rs537509954
• ExAC: 2:73717062 C / G
• gnomAD v2: 2-73717062-C-G
• gnomAD v3: 2-73489935-C-G
• gnomAD v4: 2-73489935-C-G
• MyVariant Identifiers: chr2:g.73717062C>G (hg19) ; chr2:g.73489935C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489935C>G , CM000664.2:g.73489935C>G	GRCh38
NC_000002.11:g.73717062C>G , CM000664.1:g.73717062C>G	GRCh37
NC_000002.10:g.73570570C>G	NCBI36
NG_011690.1:g.109183C>G , LRG_741:g.109183C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7595C>G	ENSP00000507671.1:p.Pro2532Arg
ENST00000682801.1:c.7595C>G	ENSP00000507862.1:p.Pro2532Arg
ENST00000682859.1:c.7595C>G	ENSP00000508222.1:p.Pro2532Arg
ENST00000683791.1:c.987C>G
ENST00000684460.1:c.5047C>G
ENST00000684548.1:c.7595C>G	ENSP00000507421.1:p.Pro2532Arg
ENST00000684590.1:c.2042C>G	ENSP00000507376.1:p.Pro681Arg
ENST00000684656.1:c.5047C>G
ENST00000613296.6:c.7976C>G MANE Select	ENSP00000482968.1:p.Pro2659Arg
ENST00000651434.1:c.896-29840C>G
ENST00000423048.5:c.2807C>G	ENSP00000399833.1:p.Pro936Arg
ENST00000484298.5:c.7850C>G	ENSP00000478155.1:p.Pro2617Arg
ENST00000613296.4:c.7976C>G	ENSP00000482968.1:p.Pro2659Arg
ENST00000614410.4:c.7976C>G	ENSP00000479094.1:p.Pro2659Arg
ENST00000620466.4:n.1779C>G
NM_015120.4:c.7979C>G , LRG_741t1:c.7979C>G	NP_055935.4:p.Pro2660Arg
NM_001378454.1:c.7976C>G MANE Select	NP_001365383.1:p.Pro2659Arg