Canonical Allele Identifier: CA1713596

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 529367
• ClinVar RCV Id: RCV000634774 ; RCV001172517 ; RCV001557628 ; RCV002360539
• dbSNP Id: rs372563916
• ExAC: 2:73677466 C / A
• gnomAD v2: 2-73677466-C-A
• gnomAD v3: 2-73450339-C-A
• gnomAD v4: 2-73450339-C-A
• MyVariant Identifiers: chr2:g.73677466C>A (hg19) ; chr2:g.73450339C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450339C>A , CM000664.2:g.73450339C>A	GRCh38
NC_000002.11:g.73677466C>A , CM000664.1:g.73677466C>A	GRCh37
NC_000002.10:g.73530974C>A	NCBI36
NG_011690.1:g.69587C>A , LRG_741:g.69587C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.3431C>A	ENSP00000507671.1:p.Pro1144Gln
ENST00000682801.1:c.3431C>A	ENSP00000507862.1:p.Pro1144Gln
ENST00000682859.1:c.3431C>A	ENSP00000508222.1:p.Pro1144Gln
ENST00000683791.1:c.685+18048C>A
ENST00000684460.1:c.883C>A
ENST00000684548.1:c.3431C>A	ENSP00000507421.1:p.Pro1144Gln
ENST00000684656.1:c.883C>A
ENST00000613296.6:c.3812C>A MANE Select	ENSP00000482968.1:p.Pro1271Gln
ENST00000484298.5:c.3686C>A	ENSP00000478155.1:p.Pro1229Gln
ENST00000613296.4:c.3812C>A	ENSP00000482968.1:p.Pro1271Gln
ENST00000614410.4:c.3812C>A	ENSP00000479094.1:p.Pro1271Gln
NM_015120.4:c.3815C>A , LRG_741t1:c.3815C>A	NP_055935.4:p.Pro1272Gln
NM_001378454.1:c.3812C>A MANE Select	NP_001365383.1:p.Pro1271Gln