Canonical Allele Identifier: CA347278197

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73559079A>T , CM000664.2:g.73559079A>T	GRCh38
NC_000002.11:g.73786206A>T , CM000664.1:g.73786206A>T	GRCh37
NC_000002.10:g.73639714A>T	NCBI36
NG_011690.1:g.178327A>T , LRG_741:g.178327A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.10321A>T MANE Select	NP_001365383.1:p.Lys3441Ter
ENST00000613296.6:c.10321A>T MANE Select	ENSP00000482968.1:p.Lys3441Ter
NM_015120.4:c.10324A>T , LRG_741t1:c.10324A>T	NP_055935.4:p.Lys3442Ter
ENST00000423048.5:c.3812A>T	ENSP00000399833.1:n.3812A>T
ENST00000484298.5:c.10195A>T	ENSP00000478155.1:p.Lys3399Ter
ENST00000613296.4:c.10321A>T	ENSP00000482968.1:p.Lys3441Ter
ENST00000614410.4:c.10321A>T	ENSP00000479094.1:p.Lys3441Ter
ENST00000620466.4:n.4124A>T
ENST00000651057.1:c.475A>T	ENSP00000498504.1:p.Lys159Ter
ENST00000651434.1:c.1677A>T
ENST00000652487.1:c.1418A>T
ENST00000682565.1:c.9940A>T	ENSP00000507671.1:p.Lys3314Ter
ENST00000682801.1:c.9940A>T	ENSP00000507862.1:p.Lys3314Ter
ENST00000682859.1:c.9940A>T	ENSP00000508222.1:p.Lys3314Ter
ENST00000683791.1:c.3089+8642A>T
ENST00000684460.1:c.7221A>T
ENST00000684548.1:c.9940A>T	ENSP00000507421.1:p.Lys3314Ter
ENST00000684590.1:c.4387A>T	ENSP00000507376.1:p.Lys1463Ter
ENST00000684656.1:c.7266A>T