Canonical Allele Identifier: CA347268402

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1926014
• ClinVar RCV Id: RCV002604992
• dbSNP Id: rs1458798015
• gnomAD v2: 2-73717436-G-C
• gnomAD v4: 2-73490309-G-C
• MyVariant Identifiers: chr2:g.73717436G>C (hg19) ; chr2:g.73490309G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490309G>C , CM000664.2:g.73490309G>C	GRCh38
NC_000002.11:g.73717436G>C , CM000664.1:g.73717436G>C	GRCh37
NC_000002.10:g.73570944G>C	NCBI36
NG_011690.1:g.109557G>C , LRG_741:g.109557G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7969G>C	ENSP00000507671.1:p.Glu2657Gln
ENST00000682801.1:c.7969G>C	ENSP00000507862.1:p.Glu2657Gln
ENST00000682859.1:c.7969G>C	ENSP00000508222.1:p.Glu2657Gln
ENST00000683791.1:c.1361G>C
ENST00000684460.1:c.5421G>C
ENST00000684548.1:c.7969G>C	ENSP00000507421.1:p.Glu2657Gln
ENST00000684590.1:c.2416G>C	ENSP00000507376.1:p.Glu806Gln
ENST00000684656.1:c.5421G>C
ENST00000613296.6:c.8350G>C MANE Select	ENSP00000482968.1:p.Glu2784Gln
ENST00000651434.1:c.896-29466G>C
ENST00000423048.5:c.3030+151G>C	ENSP00000399833.1:n.3030+151G>C
ENST00000484298.5:c.8224G>C	ENSP00000478155.1:p.Glu2742Gln
ENST00000613296.4:c.8350G>C	ENSP00000482968.1:p.Glu2784Gln
ENST00000614410.4:c.8350G>C	ENSP00000479094.1:p.Glu2784Gln
ENST00000620466.4:n.2153G>C
NM_015120.4:c.8353G>C , LRG_741t1:c.8353G>C	NP_055935.4:p.Glu2785Gln
NM_001378454.1:c.8350G>C MANE Select	NP_001365383.1:p.Glu2784Gln