Canonical Allele Identifier: CA347267178

Gene: ALMS1

Linked Data

• dbSNP Id: rs1672942193
• gnomAD v3: 2-73490015-C-A
• gnomAD v4: 2-73490015-C-A
• MyVariant Identifiers: chr2:g.73717142C>A (hg19) ; chr2:g.73490015C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490015C>A , CM000664.2:g.73490015C>A	GRCh38
NC_000002.11:g.73717142C>A , CM000664.1:g.73717142C>A	GRCh37
NC_000002.10:g.73570650C>A	NCBI36
NG_011690.1:g.109263C>A , LRG_741:g.109263C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7675C>A	ENSP00000507671.1:p.Pro2559Thr
ENST00000682801.1:c.7675C>A	ENSP00000507862.1:p.Pro2559Thr
ENST00000682859.1:c.7675C>A	ENSP00000508222.1:p.Pro2559Thr
ENST00000683791.1:c.1067C>A
ENST00000684460.1:c.5127C>A
ENST00000684548.1:c.7675C>A	ENSP00000507421.1:p.Pro2559Thr
ENST00000684590.1:c.2122C>A	ENSP00000507376.1:p.Pro708Thr
ENST00000684656.1:c.5127C>A
ENST00000613296.6:c.8056C>A MANE Select	ENSP00000482968.1:p.Pro2686Thr
ENST00000651434.1:c.896-29760C>A
ENST00000423048.5:c.2887C>A	ENSP00000399833.1:p.Pro963Thr
ENST00000484298.5:c.7930C>A	ENSP00000478155.1:p.Pro2644Thr
ENST00000613296.4:c.8056C>A	ENSP00000482968.1:p.Pro2686Thr
ENST00000614410.4:c.8056C>A	ENSP00000479094.1:p.Pro2686Thr
ENST00000620466.4:n.1859C>A
NM_015120.4:c.8059C>A , LRG_741t1:c.8059C>A	NP_055935.4:p.Pro2687Thr
NM_001378454.1:c.8056C>A MANE Select	NP_001365383.1:p.Pro2686Thr