Canonical Allele Identifier: CA347266031

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828418C>G (hg19) ; chr2:g.73601291C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601291C>G , CM000664.2:g.73601291C>G	GRCh38
NC_000002.11:g.73828418C>G , CM000664.1:g.73828418C>G	GRCh37
NC_000002.10:g.73681926C>G	NCBI36
NG_011690.1:g.220539C>G , LRG_741:g.220539C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11588C>G	ENSP00000507671.1:p.Pro3863Arg
ENST00000682801.1:c.11167-894C>G	ENSP00000507862.1:n.11167-894C>G
ENST00000682859.1:c.11588C>G	ENSP00000508222.1:p.Pro3863Arg
ENST00000683791.1:c.4674C>G
ENST00000684460.1:c.8869C>G
ENST00000684548.1:c.11588C>G	ENSP00000507421.1:p.Pro3863Arg
ENST00000684590.1:c.6035C>G	ENSP00000507376.1:p.Pro2012Arg
ENST00000684656.1:c.9053C>G
ENST00000613296.6:c.11969C>G MANE Select	ENSP00000482968.1:p.Pro3990Arg
ENST00000651057.1:c.2123C>G	ENSP00000498504.1:p.Pro708Arg
ENST00000651434.1:c.3325C>G
ENST00000651750.1:c.1260+410C>G
ENST00000652487.1:c.3140C>G
ENST00000464408.3:n.144C>G
ENST00000484298.5:c.11843C>G	ENSP00000478155.1:p.Pro3948Arg
ENST00000613296.4:c.11969C>G	ENSP00000482968.1:p.Pro3990Arg
ENST00000620466.4:n.5772C>G
NM_015120.4:c.11972C>G , LRG_741t1:c.11972C>G	NP_055935.4:p.Pro3991Arg
NM_001378454.1:c.11969C>G MANE Select	NP_001365383.1:p.Pro3990Arg