Canonical Allele Identifier: CA347267114

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 3226583
• ClinVar RCV Id: RCV004519800
• gnomAD v4: 2-73601414-C-T
• MyVariant Identifiers: chr2:g.73828541C>T (hg19) ; chr2:g.73601414C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601414C>T , CM000664.2:g.73601414C>T	GRCh38
NC_000002.11:g.73828541C>T , CM000664.1:g.73828541C>T	GRCh37
NC_000002.10:g.73682049C>T	NCBI36
NG_011690.1:g.220662C>T , LRG_741:g.220662C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11711C>T	ENSP00000507671.1:p.Pro3904Leu
ENST00000682801.1:c.11167-771C>T	ENSP00000507862.1:n.11167-771C>T
ENST00000682859.1:c.11711C>T	ENSP00000508222.1:p.Pro3904Leu
ENST00000683791.1:c.4797C>T
ENST00000684460.1:c.8992C>T
ENST00000684548.1:c.11711C>T	ENSP00000507421.1:p.Pro3904Leu
ENST00000684590.1:c.6158C>T	ENSP00000507376.1:p.Pro2053Leu
ENST00000684656.1:c.9176C>T
ENST00000613296.6:c.12092C>T MANE Select	ENSP00000482968.1:p.Pro4031Leu
ENST00000651057.1:c.2246C>T	ENSP00000498504.1:p.Pro749Leu
ENST00000651434.1:c.3448C>T
ENST00000651750.1:c.1260+533C>T
ENST00000652487.1:c.3263C>T
ENST00000464408.3:n.267C>T
ENST00000484298.5:c.11966C>T	ENSP00000478155.1:p.Pro3989Leu
ENST00000613296.4:c.12092C>T	ENSP00000482968.1:p.Pro4031Leu
ENST00000620466.4:n.5895C>T
NM_015120.4:c.12095C>T , LRG_741t1:c.12095C>T	NP_055935.4:p.Pro4032Leu
NM_001378454.1:c.12092C>T MANE Select	NP_001365383.1:p.Pro4031Leu