Canonical Allele Identifier: CA347283851

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73452430C>A , CM000664.2:g.73452430C>A	GRCh38
NC_000002.11:g.73679557C>A , CM000664.1:g.73679557C>A	GRCh37
NC_000002.10:g.73533065C>A	NCBI36
NG_011690.1:g.71678C>A , LRG_741:g.71678C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.5903C>A MANE Select	NP_001365383.1:p.Ser1968Ter
ENST00000613296.6:c.5903C>A MANE Select	ENSP00000482968.1:p.Ser1968Ter
NM_015120.4:c.5906C>A , LRG_741t1:c.5906C>A	NP_055935.4:p.Ser1969Ter
ENST00000423048.5:c.734C>A	ENSP00000399833.1:p.Ser245Ter
ENST00000484298.5:c.5777C>A	ENSP00000478155.1:p.Ser1926Ter
ENST00000613296.4:c.5903C>A	ENSP00000482968.1:p.Ser1968Ter
ENST00000614410.4:c.5903C>A	ENSP00000479094.1:p.Ser1968Ter
ENST00000682565.1:c.5522C>A	ENSP00000507671.1:p.Ser1841Ter
ENST00000682801.1:c.5522C>A	ENSP00000507862.1:p.Ser1841Ter
ENST00000682859.1:c.5522C>A	ENSP00000508222.1:p.Ser1841Ter
ENST00000683791.1:c.685+20139C>A
ENST00000684197.1:n.872C>A
ENST00000684460.1:c.2974C>A
ENST00000684548.1:c.5522C>A	ENSP00000507421.1:p.Ser1841Ter
ENST00000684590.1:c.20C>A	ENSP00000507376.1:p.Ser7Ter
ENST00000684656.1:c.2974C>A