Canonical Allele Identifier: CA347267183

Gene: ALMS1

Linked Data

• dbSNP Id: rs1672942193
• MyVariant Identifiers: chr2:g.73717142C>G (hg19) ; chr2:g.73490015C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7675C>G	ENSP00000507671.1:p.Pro2559Ala
ENST00000682801.1:c.7675C>G	ENSP00000507862.1:p.Pro2559Ala
ENST00000682859.1:c.7675C>G	ENSP00000508222.1:p.Pro2559Ala
ENST00000683791.1:c.1067C>G
ENST00000684460.1:c.5127C>G
ENST00000684548.1:c.7675C>G	ENSP00000507421.1:p.Pro2559Ala
ENST00000684590.1:c.2122C>G	ENSP00000507376.1:p.Pro708Ala
ENST00000684656.1:c.5127C>G
ENST00000613296.6:c.8056C>G MANE Select	ENSP00000482968.1:p.Pro2686Ala
ENST00000651434.1:c.896-29760C>G
ENST00000423048.5:c.2887C>G	ENSP00000399833.1:p.Pro963Ala
ENST00000484298.5:c.7930C>G	ENSP00000478155.1:p.Pro2644Ala
ENST00000613296.4:c.8056C>G	ENSP00000482968.1:p.Pro2686Ala
ENST00000614410.4:c.8056C>G	ENSP00000479094.1:p.Pro2686Ala
ENST00000620466.4:n.1859C>G
NM_015120.4:c.8059C>G , LRG_741t1:c.8059C>G	NP_055935.4:p.Pro2687Ala
NM_001378454.1:c.8056C>G MANE Select	NP_001365383.1:p.Pro2686Ala