Canonical Allele Identifier: CA2659619807

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 3022874
• ClinVar RCV Id: RCV003882060
• gnomAD v4: 2-73489619-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489619G>T , CM000664.2:g.73489619G>T	GRCh38
NC_000002.11:g.73716746G>T , CM000664.1:g.73716746G>T	GRCh37
NC_000002.10:g.73570254G>T	NCBI36
NG_011690.1:g.108867G>T , LRG_741:g.108867G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7294-15G>T	ENSP00000507671.1:n.7294-15G>T
ENST00000682801.1:c.7294-15G>T	ENSP00000507862.1:n.7294-15G>T
ENST00000682859.1:c.7294-15G>T	ENSP00000508222.1:n.7294-15G>T
ENST00000683791.1:c.686-15G>T
ENST00000684460.1:c.4746-15G>T
ENST00000684548.1:c.7294-15G>T	ENSP00000507421.1:n.7294-15G>T
ENST00000684590.1:c.1741-15G>T	ENSP00000507376.1:n.1741-15G>T
ENST00000684656.1:c.4746-15G>T
ENST00000613296.6:c.7675-15G>T MANE Select	ENSP00000482968.1:n.7675-15G>T
ENST00000651434.1:c.896-30156G>T
ENST00000423048.5:c.2506-15G>T	ENSP00000399833.1:n.2506-15G>T
ENST00000484298.5:c.7549-15G>T	ENSP00000478155.1:n.7549-15G>T
ENST00000613296.4:c.7675-15G>T	ENSP00000482968.1:n.7675-15G>T
ENST00000614410.4:c.7675-15G>T	ENSP00000479094.1:n.7675-15G>T
ENST00000620466.4:n.1478-15G>T
NM_015120.4:c.7678-15G>T , LRG_741t1:c.7678-15G>T	NP_055935.4:n.7678-15G>T
NM_001378454.1:c.7675-15G>T MANE Select	NP_001365383.1:n.7675-15G>T