Canonical Allele Identifier: CA347267655

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1387209
• ClinVar RCV Id: RCV001881833
• dbSNP Id: rs1234404032
• MyVariant Identifiers: chr2:g.73717232A>C (hg19) ; chr2:g.73490105A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490105A>C , CM000664.2:g.73490105A>C	GRCh38
NC_000002.11:g.73717232A>C , CM000664.1:g.73717232A>C	GRCh37
NC_000002.10:g.73570740A>C	NCBI36
NG_011690.1:g.109353A>C , LRG_741:g.109353A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7765A>C	ENSP00000507671.1:p.Thr2589Pro
ENST00000682801.1:c.7765A>C	ENSP00000507862.1:p.Thr2589Pro
ENST00000682859.1:c.7765A>C	ENSP00000508222.1:p.Thr2589Pro
ENST00000683791.1:c.1157A>C
ENST00000684460.1:c.5217A>C
ENST00000684548.1:c.7765A>C	ENSP00000507421.1:p.Thr2589Pro
ENST00000684590.1:c.2212A>C	ENSP00000507376.1:p.Thr738Pro
ENST00000684656.1:c.5217A>C
ENST00000613296.6:c.8146A>C MANE Select	ENSP00000482968.1:p.Thr2716Pro
ENST00000651434.1:c.896-29670A>C
ENST00000423048.5:c.2977A>C	ENSP00000399833.1:p.Thr993Pro
ENST00000484298.5:c.8020A>C	ENSP00000478155.1:p.Thr2674Pro
ENST00000613296.4:c.8146A>C	ENSP00000482968.1:p.Thr2716Pro
ENST00000614410.4:c.8146A>C	ENSP00000479094.1:p.Thr2716Pro
ENST00000620466.4:n.1949A>C
NM_015120.4:c.8149A>C , LRG_741t1:c.8149A>C	NP_055935.4:p.Thr2717Pro
NM_001378454.1:c.8146A>C MANE Select	NP_001365383.1:p.Thr2716Pro