Canonical Allele Identifier: CA1714366

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 556786
• ClinVar RCV Id: RCV000672838
• dbSNP Id: rs201426207
• ExAC: 2:73716986 G / T
• gnomAD v2: 2-73716986-G-T
• gnomAD v3: 2-73489859-G-T
• gnomAD v4: 2-73489859-G-T
• MyVariant Identifiers: chr2:g.73716986G>T (hg19) ; chr2:g.73489859G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489859G>T , CM000664.2:g.73489859G>T	GRCh38
NC_000002.11:g.73716986G>T , CM000664.1:g.73716986G>T	GRCh37
NC_000002.10:g.73570494G>T	NCBI36
NG_011690.1:g.109107G>T , LRG_741:g.109107G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7519G>T	ENSP00000507671.1:p.Asp2507Tyr
ENST00000682801.1:c.7519G>T	ENSP00000507862.1:p.Asp2507Tyr
ENST00000682859.1:c.7519G>T	ENSP00000508222.1:p.Asp2507Tyr
ENST00000683791.1:c.911G>T
ENST00000684460.1:c.4971G>T
ENST00000684548.1:c.7519G>T	ENSP00000507421.1:p.Asp2507Tyr
ENST00000684590.1:c.1966G>T	ENSP00000507376.1:p.Asp656Tyr
ENST00000684656.1:c.4971G>T
ENST00000613296.6:c.7900G>T MANE Select	ENSP00000482968.1:p.Asp2634Tyr
ENST00000651434.1:c.896-29916G>T
ENST00000423048.5:c.2731G>T	ENSP00000399833.1:p.Asp911Tyr
ENST00000484298.5:c.7774G>T	ENSP00000478155.1:p.Asp2592Tyr
ENST00000613296.4:c.7900G>T	ENSP00000482968.1:p.Asp2634Tyr
ENST00000614410.4:c.7900G>T	ENSP00000479094.1:p.Asp2634Tyr
ENST00000620466.4:n.1703G>T
NM_015120.4:c.7903G>T , LRG_741t1:c.7903G>T	NP_055935.4:p.Asp2635Tyr
NM_001378454.1:c.7900G>T MANE Select	NP_001365383.1:p.Asp2634Tyr