Canonical Allele Identifier: CA426783581

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1560804
• ClinVar RCV Id: RCV002209252 ; RCV002346385
• dbSNP Id: rs1406016543
• gnomAD v2: 2-73828476-G-A
• gnomAD v4: 2-73601349-G-A
• MyVariant Identifiers: chr2:g.73828476G>A (hg19) ; chr2:g.73601349G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601349G>A , CM000664.2:g.73601349G>A	GRCh38
NC_000002.11:g.73828476G>A , CM000664.1:g.73828476G>A	GRCh37
NC_000002.10:g.73681984G>A	NCBI36
NG_011690.1:g.220597G>A , LRG_741:g.220597G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11646G>A	ENSP00000507671.1:p.Gln3882=
ENST00000682801.1:c.11167-836G>A	ENSP00000507862.1:n.11167-836G>A
ENST00000682859.1:c.11646G>A	ENSP00000508222.1:p.Gln3882=
ENST00000683791.1:c.4732G>A
ENST00000684460.1:c.8927G>A
ENST00000684548.1:c.11646G>A	ENSP00000507421.1:p.Gln3882=
ENST00000684590.1:c.6093G>A	ENSP00000507376.1:p.Gln2031=
ENST00000684656.1:c.9111G>A
ENST00000613296.6:c.12027G>A MANE Select	ENSP00000482968.1:p.Gln4009=
ENST00000651057.1:c.2181G>A	ENSP00000498504.1:p.Gln727=
ENST00000651434.1:c.3383G>A
ENST00000651750.1:c.1260+468G>A
ENST00000652487.1:c.3198G>A
ENST00000464408.3:n.202G>A
ENST00000484298.5:c.11901G>A	ENSP00000478155.1:p.Gln3967=
ENST00000613296.4:c.12027G>A	ENSP00000482968.1:p.Gln4009=
ENST00000620466.4:n.5830G>A
NM_015120.4:c.12030G>A , LRG_741t1:c.12030G>A	NP_055935.4:p.Gln4010=
NM_001378454.1:c.12027G>A MANE Select	NP_001365383.1:p.Gln4009=