Canonical Allele Identifier: CA50377528

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 698986
• ClinVar RCV Id: RCV001429958 ; RCV002409044
• dbSNP Id: rs1034500469
• gnomAD v2: 2-73716907-T-C
• gnomAD v3: 2-73489780-T-C
• gnomAD v4: 2-73489780-T-C
• MyVariant Identifiers: chr2:g.73716907T>C (hg19) ; chr2:g.73489780T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489780T>C , CM000664.2:g.73489780T>C	GRCh38
NC_000002.11:g.73716907T>C , CM000664.1:g.73716907T>C	GRCh37
NC_000002.10:g.73570415T>C	NCBI36
NG_011690.1:g.109028T>C , LRG_741:g.109028T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7440T>C	ENSP00000507671.1:p.Ala2480=
ENST00000682801.1:c.7440T>C	ENSP00000507862.1:p.Ala2480=
ENST00000682859.1:c.7440T>C	ENSP00000508222.1:p.Ala2480=
ENST00000683791.1:c.832T>C
ENST00000684460.1:c.4892T>C
ENST00000684548.1:c.7440T>C	ENSP00000507421.1:p.Ala2480=
ENST00000684590.1:c.1887T>C	ENSP00000507376.1:p.Ala629=
ENST00000684656.1:c.4892T>C
ENST00000613296.6:c.7821T>C MANE Select	ENSP00000482968.1:p.Ala2607=
ENST00000651434.1:c.896-29995T>C
ENST00000423048.5:c.2652T>C	ENSP00000399833.1:p.Ala884=
ENST00000484298.5:c.7695T>C	ENSP00000478155.1:p.Ala2565=
ENST00000613296.4:c.7821T>C	ENSP00000482968.1:p.Ala2607=
ENST00000614410.4:c.7821T>C	ENSP00000479094.1:p.Ala2607=
ENST00000620466.4:n.1624T>C
NM_015120.4:c.7824T>C , LRG_741t1:c.7824T>C	NP_055935.4:p.Ala2608=
NM_001378454.1:c.7821T>C MANE Select	NP_001365383.1:p.Ala2607=