Canonical Allele Identifier: CA347263853

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73716773C>A (hg19) ; chr2:g.73489646C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489646C>A , CM000664.2:g.73489646C>A	GRCh38
NC_000002.11:g.73716773C>A , CM000664.1:g.73716773C>A	GRCh37
NC_000002.10:g.73570281C>A	NCBI36
NG_011690.1:g.108894C>A , LRG_741:g.108894C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7306C>A	ENSP00000507671.1:p.Pro2436Thr
ENST00000682801.1:c.7306C>A	ENSP00000507862.1:p.Pro2436Thr
ENST00000682859.1:c.7306C>A	ENSP00000508222.1:p.Pro2436Thr
ENST00000683791.1:c.698C>A
ENST00000684460.1:c.4758C>A
ENST00000684548.1:c.7306C>A	ENSP00000507421.1:p.Pro2436Thr
ENST00000684590.1:c.1753C>A	ENSP00000507376.1:p.Pro585Thr
ENST00000684656.1:c.4758C>A
ENST00000613296.6:c.7687C>A MANE Select	ENSP00000482968.1:p.Pro2563Thr
ENST00000651434.1:c.896-30129C>A
ENST00000423048.5:c.2518C>A	ENSP00000399833.1:p.Pro840Thr
ENST00000484298.5:c.7561C>A	ENSP00000478155.1:p.Pro2521Thr
ENST00000613296.4:c.7687C>A	ENSP00000482968.1:p.Pro2563Thr
ENST00000614410.4:c.7687C>A	ENSP00000479094.1:p.Pro2563Thr
ENST00000620466.4:n.1490C>A
NM_015120.4:c.7690C>A , LRG_741t1:c.7690C>A	NP_055935.4:p.Pro2564Thr
NM_001378454.1:c.7687C>A MANE Select	NP_001365383.1:p.Pro2563Thr