Canonical Allele Identifier: CA1713706

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 393373
• ClinVar RCV Id: RCV000445538 ; RCV000666784 ; RCV001201200 ; RCV001575003 ; RCV002329006
• dbSNP Id: rs373638043
• ExAC: 2:73678059 C / A
• gnomAD v2: 2-73678059-C-A
• gnomAD v3: 2-73450932-C-A
• gnomAD v4: 2-73450932-C-A
• MyVariant Identifiers: chr2:g.73678059C>A (hg19) ; chr2:g.73450932C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450932C>A , CM000664.2:g.73450932C>A	GRCh38
NC_000002.11:g.73678059C>A , CM000664.1:g.73678059C>A	GRCh37
NC_000002.10:g.73531567C>A	NCBI36
NG_011690.1:g.70180C>A , LRG_741:g.70180C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.4024C>A	ENSP00000507671.1:p.Pro1342Thr
ENST00000682801.1:c.4024C>A	ENSP00000507862.1:p.Pro1342Thr
ENST00000682859.1:c.4024C>A	ENSP00000508222.1:p.Pro1342Thr
ENST00000683791.1:c.685+18641C>A
ENST00000684460.1:c.1476C>A
ENST00000684548.1:c.4024C>A	ENSP00000507421.1:p.Pro1342Thr
ENST00000684656.1:c.1476C>A
ENST00000613296.6:c.4405C>A MANE Select	ENSP00000482968.1:p.Pro1469Thr
ENST00000484298.5:c.4279C>A	ENSP00000478155.1:p.Pro1427Thr
ENST00000613296.4:c.4405C>A	ENSP00000482968.1:p.Pro1469Thr
ENST00000614410.4:c.4405C>A	ENSP00000479094.1:p.Pro1469Thr
NM_015120.4:c.4408C>A , LRG_741t1:c.4408C>A	NP_055935.4:p.Pro1470Thr
NM_001378454.1:c.4405C>A MANE Select	NP_001365383.1:p.Pro1469Thr