Canonical Allele Identifier: CA207921

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 210126
• ClinVar RCV Id: RCV000194030 ; RCV000463604 ; RCV000726112 ; RCV001172511 ; RCV002415817
• dbSNP Id: rs199573929
• ExAC: 2:73675690 A / G
• gnomAD v2: 2-73675690-A-G
• gnomAD v3: 2-73448563-A-G
• gnomAD v4: 2-73448563-A-G
• MyVariant Identifiers: chr2:g.73675690A>G (hg19) ; chr2:g.73448563A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73448563A>G , CM000664.2:g.73448563A>G	GRCh38
NC_000002.11:g.73675690A>G , CM000664.1:g.73675690A>G	GRCh37
NC_000002.10:g.73529198A>G	NCBI36
NG_011690.1:g.67811A>G , LRG_741:g.67811A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.1655A>G	ENSP00000507671.1:p.Tyr552Cys
ENST00000682801.1:c.1655A>G	ENSP00000507862.1:p.Tyr552Cys
ENST00000682859.1:c.1655A>G	ENSP00000508222.1:p.Tyr552Cys
ENST00000683791.1:c.685+16272A>G
ENST00000684548.1:c.1655A>G	ENSP00000507421.1:p.Tyr552Cys
ENST00000613296.6:c.2036A>G MANE Select	ENSP00000482968.1:p.Tyr679Cys
ENST00000484298.5:c.1910A>G	ENSP00000478155.1:p.Tyr637Cys
ENST00000613296.4:c.2036A>G	ENSP00000482968.1:p.Tyr679Cys
ENST00000614410.4:c.2036A>G	ENSP00000479094.1:p.Tyr679Cys
NM_015120.4:c.2039A>G , LRG_741t1:c.2039A>G	NP_055935.4:p.Tyr680Cys
NM_001378454.1:c.2036A>G MANE Select	NP_001365383.1:p.Tyr679Cys