Canonical Allele Identifier: CA347285959

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1787854
• ClinVar RCV Id: RCV002420107 ; RCV003101133
• dbSNP Id: rs1285643974
• gnomAD v2: 2-73799872-T-C
• gnomAD v4: 2-73572745-T-C
• MyVariant Identifiers: chr2:g.73799872T>C (hg19) ; chr2:g.73572745T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572745T>C , CM000664.2:g.73572745T>C	GRCh38
NC_000002.11:g.73799872T>C , CM000664.1:g.73799872T>C	GRCh37
NC_000002.10:g.73653380T>C	NCBI36
NG_011690.1:g.191993T>C , LRG_741:g.191993T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10487T>C	ENSP00000507671.1:p.Leu3496Pro
ENST00000682801.1:c.10487T>C	ENSP00000507862.1:p.Leu3496Pro
ENST00000682859.1:c.10487T>C	ENSP00000508222.1:p.Leu3496Pro
ENST00000683791.1:c.3573T>C
ENST00000684460.1:c.7768T>C
ENST00000684548.1:c.10487T>C	ENSP00000507421.1:p.Leu3496Pro
ENST00000684590.1:c.4934T>C	ENSP00000507376.1:p.Leu1645Pro
ENST00000684656.1:c.7813T>C
ENST00000613296.6:c.10868T>C MANE Select	ENSP00000482968.1:p.Leu3623Pro
ENST00000651057.1:c.1022T>C	ENSP00000498504.1:p.Leu341Pro
ENST00000651434.1:c.2224T>C
ENST00000651750.1:c.256T>C
ENST00000652487.1:c.1965T>C
ENST00000423048.5:c.4359T>C	ENSP00000399833.1:n.4359T>C
ENST00000484298.5:c.10742T>C	ENSP00000478155.1:p.Leu3581Pro
ENST00000613296.4:c.10868T>C	ENSP00000482968.1:p.Leu3623Pro
ENST00000614410.4:c.10868T>C	ENSP00000479094.1:p.Leu3623Pro
ENST00000620466.4:n.4671T>C
NM_015120.4:c.10871T>C , LRG_741t1:c.10871T>C	NP_055935.4:p.Leu3624Pro
NM_001378454.1:c.10868T>C MANE Select	NP_001365383.1:p.Leu3623Pro