Canonical Allele Identifier: CA347286176

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799920C>A (hg19) ; chr2:g.73572793C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572793C>A , CM000664.2:g.73572793C>A	GRCh38
NC_000002.11:g.73799920C>A , CM000664.1:g.73799920C>A	GRCh37
NC_000002.10:g.73653428C>A	NCBI36
NG_011690.1:g.192041C>A , LRG_741:g.192041C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10535C>A	ENSP00000507671.1:p.Pro3512Gln
ENST00000682801.1:c.10535C>A	ENSP00000507862.1:p.Pro3512Gln
ENST00000682859.1:c.10535C>A	ENSP00000508222.1:p.Pro3512Gln
ENST00000683791.1:c.3621C>A
ENST00000684460.1:c.7816C>A
ENST00000684548.1:c.10535C>A	ENSP00000507421.1:p.Pro3512Gln
ENST00000684590.1:c.4982C>A	ENSP00000507376.1:p.Pro1661Gln
ENST00000684656.1:c.7861C>A
ENST00000613296.6:c.10916C>A MANE Select	ENSP00000482968.1:p.Pro3639Gln
ENST00000651057.1:c.1070C>A	ENSP00000498504.1:p.Pro357Gln
ENST00000651434.1:c.2272C>A
ENST00000651750.1:c.304C>A
ENST00000652487.1:c.2013C>A
ENST00000423048.5:c.4407C>A	ENSP00000399833.1:n.4407C>A
ENST00000484298.5:c.10790C>A	ENSP00000478155.1:p.Pro3597Gln
ENST00000613296.4:c.10916C>A	ENSP00000482968.1:p.Pro3639Gln
ENST00000614410.4:c.10916C>A	ENSP00000479094.1:p.Pro3639Gln
ENST00000620466.4:n.4719C>A
NM_015120.4:c.10919C>A , LRG_741t1:c.10919C>A	NP_055935.4:p.Pro3640Gln
NM_001378454.1:c.10916C>A MANE Select	NP_001365383.1:p.Pro3639Gln