Canonical Allele Identifier: CA426783565

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828449A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601322A>T , CM000664.2:g.73601322A>T	GRCh38
NC_000002.11:g.73828449A>T , CM000664.1:g.73828449A>T	GRCh37
NC_000002.10:g.73681957A>T	NCBI36
NG_011690.1:g.220570A>T , LRG_741:g.220570A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11619A>T	ENSP00000507671.1:p.Pro3873=
ENST00000682801.1:c.11167-863A>T	ENSP00000507862.1:n.11167-863A>T
ENST00000682859.1:c.11619A>T	ENSP00000508222.1:p.Pro3873=
ENST00000683791.1:c.4705A>T
ENST00000684460.1:c.8900A>T
ENST00000684548.1:c.11619A>T	ENSP00000507421.1:p.Pro3873=
ENST00000684590.1:c.6066A>T	ENSP00000507376.1:p.Pro2022=
ENST00000684656.1:c.9084A>T
ENST00000613296.6:c.12000A>T MANE Select	ENSP00000482968.1:p.Pro4000=
ENST00000651057.1:c.2154A>T	ENSP00000498504.1:p.Pro718=
ENST00000651434.1:c.3356A>T
ENST00000651750.1:c.1260+441A>T
ENST00000652487.1:c.3171A>T
ENST00000464408.3:n.175A>T
ENST00000484298.5:c.11874A>T	ENSP00000478155.1:p.Pro3958=
ENST00000613296.4:c.12000A>T	ENSP00000482968.1:p.Pro4000=
ENST00000620466.4:n.5803A>T
NM_015120.4:c.12003A>T , LRG_741t1:c.12003A>T	NP_055935.4:p.Pro4001=
NM_001378454.1:c.12000A>T MANE Select	NP_001365383.1:p.Pro4000=