Canonical Allele Identifier: CA347266595

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73601354-T-C
• MyVariant Identifiers: chr2:g.73828481T>C (hg19) ; chr2:g.73601354T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601354T>C , CM000664.2:g.73601354T>C	GRCh38
NC_000002.11:g.73828481T>C , CM000664.1:g.73828481T>C	GRCh37
NC_000002.10:g.73681989T>C	NCBI36
NG_011690.1:g.220602T>C , LRG_741:g.220602T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11651T>C	ENSP00000507671.1:p.Leu3884Pro
ENST00000682801.1:c.11167-831T>C	ENSP00000507862.1:n.11167-831T>C
ENST00000682859.1:c.11651T>C	ENSP00000508222.1:p.Leu3884Pro
ENST00000683791.1:c.4737T>C
ENST00000684460.1:c.8932T>C
ENST00000684548.1:c.11651T>C	ENSP00000507421.1:p.Leu3884Pro
ENST00000684590.1:c.6098T>C	ENSP00000507376.1:p.Leu2033Pro
ENST00000684656.1:c.9116T>C
ENST00000613296.6:c.12032T>C MANE Select	ENSP00000482968.1:p.Leu4011Pro
ENST00000651057.1:c.2186T>C	ENSP00000498504.1:p.Leu729Pro
ENST00000651434.1:c.3388T>C
ENST00000651750.1:c.1260+473T>C
ENST00000652487.1:c.3203T>C
ENST00000464408.3:n.207T>C
ENST00000484298.5:c.11906T>C	ENSP00000478155.1:p.Leu3969Pro
ENST00000613296.4:c.12032T>C	ENSP00000482968.1:p.Leu4011Pro
ENST00000620466.4:n.5835T>C
NM_015120.4:c.12035T>C , LRG_741t1:c.12035T>C	NP_055935.4:p.Leu4012Pro
NM_001378454.1:c.12032T>C MANE Select	NP_001365383.1:p.Leu4011Pro