Canonical Allele Identifier: CA347263959

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2089287
• ClinVar RCV Id: RCV003003115
• MyVariant Identifiers: chr2:g.73716822T>C (hg19) ; chr2:g.73489695T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489695T>C , CM000664.2:g.73489695T>C	GRCh38
NC_000002.11:g.73716822T>C , CM000664.1:g.73716822T>C	GRCh37
NC_000002.10:g.73570330T>C	NCBI36
NG_011690.1:g.108943T>C , LRG_741:g.108943T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7355T>C	ENSP00000507671.1:p.Ile2452Thr
ENST00000682801.1:c.7355T>C	ENSP00000507862.1:p.Ile2452Thr
ENST00000682859.1:c.7355T>C	ENSP00000508222.1:p.Ile2452Thr
ENST00000683791.1:c.747T>C
ENST00000684460.1:c.4807T>C
ENST00000684548.1:c.7355T>C	ENSP00000507421.1:p.Ile2452Thr
ENST00000684590.1:c.1802T>C	ENSP00000507376.1:p.Ile601Thr
ENST00000684656.1:c.4807T>C
ENST00000613296.6:c.7736T>C MANE Select	ENSP00000482968.1:p.Ile2579Thr
ENST00000651434.1:c.896-30080T>C
ENST00000423048.5:c.2567T>C	ENSP00000399833.1:p.Ile856Thr
ENST00000484298.5:c.7610T>C	ENSP00000478155.1:p.Ile2537Thr
ENST00000613296.4:c.7736T>C	ENSP00000482968.1:p.Ile2579Thr
ENST00000614410.4:c.7736T>C	ENSP00000479094.1:p.Ile2579Thr
ENST00000620466.4:n.1539T>C
NM_015120.4:c.7739T>C , LRG_741t1:c.7739T>C	NP_055935.4:p.Ile2580Thr
NM_001378454.1:c.7736T>C MANE Select	NP_001365383.1:p.Ile2579Thr