Canonical Allele Identifier: CA427024159

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1410798
• ClinVar RCV Id: RCV001916565
• dbSNP Id: rs1357578376
• gnomAD v2: 2-73799687-T-C
• gnomAD v4: 2-73572560-T-C
• MyVariant Identifiers: chr2:g.73799687T>C (hg19) ; chr2:g.73572560T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572560T>C , CM000664.2:g.73572560T>C	GRCh38
NC_000002.11:g.73799687T>C , CM000664.1:g.73799687T>C	GRCh37
NC_000002.10:g.73653195T>C	NCBI36
NG_011690.1:g.191808T>C , LRG_741:g.191808T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10302T>C	ENSP00000507671.1:p.Asp3434=
ENST00000682801.1:c.10302T>C	ENSP00000507862.1:p.Asp3434=
ENST00000682859.1:c.10302T>C	ENSP00000508222.1:p.Asp3434=
ENST00000683791.1:c.3388T>C
ENST00000684460.1:c.7583T>C
ENST00000684548.1:c.10302T>C	ENSP00000507421.1:p.Asp3434=
ENST00000684590.1:c.4749T>C	ENSP00000507376.1:p.Asp1583=
ENST00000684656.1:c.7628T>C
ENST00000613296.6:c.10683T>C MANE Select	ENSP00000482968.1:p.Asp3561=
ENST00000651057.1:c.837T>C	ENSP00000498504.1:p.Asp279=
ENST00000651434.1:c.2039T>C
ENST00000651750.1:c.71T>C
ENST00000652487.1:c.1780T>C
ENST00000423048.5:c.4174T>C	ENSP00000399833.1:n.4174T>C
ENST00000484298.5:c.10557T>C	ENSP00000478155.1:p.Asp3519=
ENST00000613296.4:c.10683T>C	ENSP00000482968.1:p.Asp3561=
ENST00000614410.4:c.10683T>C	ENSP00000479094.1:p.Asp3561=
ENST00000620466.4:n.4486T>C
NM_015120.4:c.10686T>C , LRG_741t1:c.10686T>C	NP_055935.4:p.Asp3562=
NM_001378454.1:c.10683T>C MANE Select	NP_001365383.1:p.Asp3561=