Canonical Allele Identifier: CA1714335

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1760410
• ClinVar RCV Id: RCV002400786 ; RCV003609227
• dbSNP Id: rs543921060
• ExAC: 2:73716826 G / A
• gnomAD v2: 2-73716826-G-A
• gnomAD v4: 2-73489699-G-A
• MyVariant Identifiers: chr2:g.73716826G>A (hg19) ; chr2:g.73489699G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7359G>A	ENSP00000507671.1:p.Glu2453=
ENST00000682801.1:c.7359G>A	ENSP00000507862.1:p.Glu2453=
ENST00000682859.1:c.7359G>A	ENSP00000508222.1:p.Glu2453=
ENST00000683791.1:c.751G>A
ENST00000684460.1:c.4811G>A
ENST00000684548.1:c.7359G>A	ENSP00000507421.1:p.Glu2453=
ENST00000684590.1:c.1806G>A	ENSP00000507376.1:p.Glu602=
ENST00000684656.1:c.4811G>A
ENST00000613296.6:c.7740G>A MANE Select	ENSP00000482968.1:p.Glu2580=
ENST00000651434.1:c.896-30076G>A
ENST00000423048.5:c.2571G>A	ENSP00000399833.1:p.Glu857=
ENST00000484298.5:c.7614G>A	ENSP00000478155.1:p.Glu2538=
ENST00000613296.4:c.7740G>A	ENSP00000482968.1:p.Glu2580=
ENST00000614410.4:c.7740G>A	ENSP00000479094.1:p.Glu2580=
ENST00000620466.4:n.1543G>A
NM_015120.4:c.7743G>A , LRG_741t1:c.7743G>A	NP_055935.4:p.Glu2581=
NM_001378454.1:c.7740G>A MANE Select	NP_001365383.1:p.Glu2580=