Canonical Allele Identifier: CA1714043

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 389275
• ClinVar RCV Id: RCV000439863 ; RCV000865671 ; RCV001172506 ; RCV001698278 ; RCV002365550
• dbSNP Id: rs28730854
• ExAC: 2:73679956 C / G
• gnomAD v2: 2-73679956-C-G
• gnomAD v3: 2-73452829-C-G
• gnomAD v4: 2-73452829-C-G
• MyVariant Identifiers: chr2:g.73679956C>G (hg19) ; chr2:g.73452829C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73452829C>G , CM000664.2:g.73452829C>G	GRCh38
NC_000002.11:g.73679956C>G , CM000664.1:g.73679956C>G	GRCh37
NC_000002.10:g.73533464C>G	NCBI36
NG_011690.1:g.72077C>G , LRG_741:g.72077C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.5921C>G	ENSP00000507671.1:p.Ser1974Trp
ENST00000682801.1:c.5921C>G	ENSP00000507862.1:p.Ser1974Trp
ENST00000682859.1:c.5921C>G	ENSP00000508222.1:p.Ser1974Trp
ENST00000683791.1:c.685+20538C>G
ENST00000684197.1:n.1271C>G
ENST00000684460.1:c.3373C>G
ENST00000684548.1:c.5921C>G	ENSP00000507421.1:p.Ser1974Trp
ENST00000684590.1:c.419C>G	ENSP00000507376.1:p.Ser140Trp
ENST00000684656.1:c.3373C>G
ENST00000613296.6:c.6302C>G MANE Select	ENSP00000482968.1:p.Ser2101Trp
ENST00000423048.5:c.1133C>G	ENSP00000399833.1:p.Ser378Trp
ENST00000484298.5:c.6176C>G	ENSP00000478155.1:p.Ser2059Trp
ENST00000613296.4:c.6302C>G	ENSP00000482968.1:p.Ser2101Trp
ENST00000614410.4:c.6302C>G	ENSP00000479094.1:p.Ser2101Trp
ENST00000620466.4:n.105C>G
NM_015120.4:c.6305C>G , LRG_741t1:c.6305C>G	NP_055935.4:p.Ser2102Trp
NM_001378454.1:c.6302C>G MANE Select	NP_001365383.1:p.Ser2101Trp