Canonical Allele Identifier: CA347262489

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73432218T>A , CM000664.2:g.73432218T>A	GRCh38
NC_000002.11:g.73659346T>A , CM000664.1:g.73659346T>A	GRCh37
NC_000002.10:g.73512854T>A	NCBI36
NG_011690.1:g.51464T>A , LRG_741:g.51464T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.1359T>A MANE Select	NP_001365383.1:p.Tyr453Ter
ENST00000613296.6:c.1359T>A MANE Select	ENSP00000482968.1:p.Tyr453Ter
NM_015120.4:c.1362T>A , LRG_741t1:c.1362T>A	NP_055935.4:p.Tyr454Ter
ENST00000484298.5:c.1233T>A	ENSP00000478155.1:p.Tyr411Ter
ENST00000613296.4:c.1359T>A	ENSP00000482968.1:p.Tyr453Ter
ENST00000614410.4:c.1359T>A	ENSP00000479094.1:p.Tyr453Ter
ENST00000682565.1:c.978T>A	ENSP00000507671.1:p.Tyr326Ter
ENST00000682801.1:c.978T>A	ENSP00000507862.1:p.Tyr326Ter
ENST00000682859.1:c.978T>A	ENSP00000508222.1:p.Tyr326Ter
ENST00000682889.1:n.1324T>A
ENST00000683791.1:c.612T>A
ENST00000684548.1:c.978T>A	ENSP00000507421.1:p.Tyr326Ter