Canonical Allele Identifier: CA1713256

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73448535T>A , CM000664.2:g.73448535T>A	GRCh38
NC_000002.11:g.73675662T>A , CM000664.1:g.73675662T>A	GRCh37
NC_000002.10:g.73529170T>A	NCBI36
NG_011690.1:g.67783T>A , LRG_741:g.67783T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.2008T>A MANE Select	NP_001365383.1:p.Ser670Thr
ENST00000613296.6:c.2008T>A MANE Select	ENSP00000482968.1:p.Ser670Thr
NM_015120.4:c.2011T>A , LRG_741t1:c.2011T>A	NP_055935.4:p.Ser671Thr
ENST00000484298.5:c.1882T>A	ENSP00000478155.1:p.Ser628Thr
ENST00000613296.4:c.2008T>A	ENSP00000482968.1:p.Ser670Thr
ENST00000614410.4:c.2008T>A	ENSP00000479094.1:p.Ser670Thr
ENST00000682565.1:c.1627T>A	ENSP00000507671.1:p.Ser543Thr
ENST00000682801.1:c.1627T>A	ENSP00000507862.1:p.Ser543Thr
ENST00000682859.1:c.1627T>A	ENSP00000508222.1:p.Ser543Thr
ENST00000683791.1:c.685+16244T>A
ENST00000684548.1:c.1627T>A	ENSP00000507421.1:p.Ser543Thr