Canonical Allele Identifier: CA1714953

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73559019C>A , CM000664.2:g.73559019C>A	GRCh38
NC_000002.11:g.73786146C>A , CM000664.1:g.73786146C>A	GRCh37
NC_000002.10:g.73639654C>A	NCBI36
NG_011690.1:g.178267C>A , LRG_741:g.178267C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.10261C>A MANE Select	NP_001365383.1:p.Pro3421Thr
ENST00000613296.6:c.10261C>A MANE Select	ENSP00000482968.1:p.Pro3421Thr
NM_015120.4:c.10264C>A , LRG_741t1:c.10264C>A	NP_055935.4:p.Pro3422Thr
ENST00000423048.5:c.3752C>A	ENSP00000399833.1:n.3752C>A
ENST00000484298.5:c.10135C>A	ENSP00000478155.1:p.Pro3379Thr
ENST00000613296.4:c.10261C>A	ENSP00000482968.1:p.Pro3421Thr
ENST00000614410.4:c.10261C>A	ENSP00000479094.1:p.Pro3421Thr
ENST00000620466.4:n.4064C>A
ENST00000651057.1:c.415C>A	ENSP00000498504.1:p.Pro139Thr
ENST00000651434.1:c.1617C>A
ENST00000652487.1:c.1358C>A
ENST00000682565.1:c.9880C>A	ENSP00000507671.1:p.Pro3294Thr
ENST00000682801.1:c.9880C>A	ENSP00000507862.1:p.Pro3294Thr
ENST00000682859.1:c.9880C>A	ENSP00000508222.1:p.Pro3294Thr
ENST00000683791.1:c.3089+8582C>A
ENST00000684460.1:c.7161C>A
ENST00000684548.1:c.9880C>A	ENSP00000507421.1:p.Pro3294Thr
ENST00000684590.1:c.4327C>A	ENSP00000507376.1:p.Pro1443Thr
ENST00000684656.1:c.7206C>A