Canonical Allele Identifier: CA427000740

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1645638
• ClinVar RCV Id: RCV002144021 ; RCV002416503
• dbSNP Id: rs1205311372
• gnomAD v3: 2-73489978-T-C
• gnomAD v4: 2-73489978-T-C
• MyVariant Identifiers: chr2:g.73717105T>C (hg19) ; chr2:g.73489978T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489978T>C , CM000664.2:g.73489978T>C	GRCh38
NC_000002.11:g.73717105T>C , CM000664.1:g.73717105T>C	GRCh37
NC_000002.10:g.73570613T>C	NCBI36
NG_011690.1:g.109226T>C , LRG_741:g.109226T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7638T>C	ENSP00000507671.1:p.Asp2546=
ENST00000682801.1:c.7638T>C	ENSP00000507862.1:p.Asp2546=
ENST00000682859.1:c.7638T>C	ENSP00000508222.1:p.Asp2546=
ENST00000683791.1:c.1030T>C
ENST00000684460.1:c.5090T>C
ENST00000684548.1:c.7638T>C	ENSP00000507421.1:p.Asp2546=
ENST00000684590.1:c.2085T>C	ENSP00000507376.1:p.Asp695=
ENST00000684656.1:c.5090T>C
ENST00000613296.6:c.8019T>C MANE Select	ENSP00000482968.1:p.Asp2673=
ENST00000651434.1:c.896-29797T>C
ENST00000423048.5:c.2850T>C	ENSP00000399833.1:p.Asp950=
ENST00000484298.5:c.7893T>C	ENSP00000478155.1:p.Asp2631=
ENST00000613296.4:c.8019T>C	ENSP00000482968.1:p.Asp2673=
ENST00000614410.4:c.8019T>C	ENSP00000479094.1:p.Asp2673=
ENST00000620466.4:n.1822T>C
NM_015120.4:c.8022T>C , LRG_741t1:c.8022T>C	NP_055935.4:p.Asp2674=
NM_001378454.1:c.8019T>C MANE Select	NP_001365383.1:p.Asp2673=