Canonical Allele Identifier: CA1714334

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 684452
• ClinVar RCV Id: RCV000844913 ; RCV001328120
• dbSNP Id: rs543921060
• ExAC: 2:73716826 G / C
• gnomAD v2: 2-73716826-G-C
• gnomAD v3: 2-73489699-G-C
• gnomAD v4: 2-73489699-G-C
• MyVariant Identifiers: chr2:g.73716826G>C (hg19) ; chr2:g.73489699G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489699G>C , CM000664.2:g.73489699G>C	GRCh38
NC_000002.11:g.73716826G>C , CM000664.1:g.73716826G>C	GRCh37
NC_000002.10:g.73570334G>C	NCBI36
NG_011690.1:g.108947G>C , LRG_741:g.108947G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7359G>C	ENSP00000507671.1:p.Glu2453Asp
ENST00000682801.1:c.7359G>C	ENSP00000507862.1:p.Glu2453Asp
ENST00000682859.1:c.7359G>C	ENSP00000508222.1:p.Glu2453Asp
ENST00000683791.1:c.751G>C
ENST00000684460.1:c.4811G>C
ENST00000684548.1:c.7359G>C	ENSP00000507421.1:p.Glu2453Asp
ENST00000684590.1:c.1806G>C	ENSP00000507376.1:p.Glu602Asp
ENST00000684656.1:c.4811G>C
ENST00000613296.6:c.7740G>C MANE Select	ENSP00000482968.1:p.Glu2580Asp
ENST00000651434.1:c.896-30076G>C
ENST00000423048.5:c.2571G>C	ENSP00000399833.1:p.Glu857Asp
ENST00000484298.5:c.7614G>C	ENSP00000478155.1:p.Glu2538Asp
ENST00000613296.4:c.7740G>C	ENSP00000482968.1:p.Glu2580Asp
ENST00000614410.4:c.7740G>C	ENSP00000479094.1:p.Glu2580Asp
ENST00000620466.4:n.1543G>C
NM_015120.4:c.7743G>C , LRG_741t1:c.7743G>C	NP_055935.4:p.Glu2581Asp
NM_001378454.1:c.7740G>C MANE Select	NP_001365383.1:p.Glu2580Asp