Canonical Allele Identifier: CA1713791

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73451461C>A , CM000664.2:g.73451461C>A	GRCh38
NC_000002.11:g.73678588C>A , CM000664.1:g.73678588C>A	GRCh37
NC_000002.10:g.73532096C>A	NCBI36
NG_011690.1:g.70709C>A , LRG_741:g.70709C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.4934C>A MANE Select	NP_001365383.1:p.Ser1645Ter
ENST00000613296.6:c.4934C>A MANE Select	ENSP00000482968.1:p.Ser1645Ter
NM_015120.4:c.4937C>A , LRG_741t1:c.4937C>A	NP_055935.4:p.Ser1646Ter
ENST00000484298.5:c.4808C>A	ENSP00000478155.1:p.Ser1603Ter
ENST00000613296.4:c.4934C>A	ENSP00000482968.1:p.Ser1645Ter
ENST00000614410.4:c.4934C>A	ENSP00000479094.1:p.Ser1645Ter
ENST00000682565.1:c.4553C>A	ENSP00000507671.1:p.Ser1518Ter
ENST00000682801.1:c.4553C>A	ENSP00000507862.1:p.Ser1518Ter
ENST00000682859.1:c.4553C>A	ENSP00000508222.1:p.Ser1518Ter
ENST00000683791.1:c.685+19170C>A
ENST00000684460.1:c.2005C>A
ENST00000684548.1:c.4553C>A	ENSP00000507421.1:p.Ser1518Ter
ENST00000684656.1:c.2005C>A