Canonical Allele Identifier: CA347290439

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453520C>A , CM000664.2:g.73453520C>A	GRCh38
NC_000002.11:g.73680647C>A , CM000664.1:g.73680647C>A	GRCh37
NC_000002.10:g.73534155C>A	NCBI36
NG_011690.1:g.72768C>A , LRG_741:g.72768C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.6993C>A MANE Select	NP_001365383.1:p.Cys2331Ter
ENST00000613296.6:c.6993C>A MANE Select	ENSP00000482968.1:p.Cys2331Ter
NM_015120.4:c.6996C>A , LRG_741t1:c.6996C>A	NP_055935.4:p.Cys2332Ter
ENST00000423048.5:c.1824C>A	ENSP00000399833.1:p.Cys608Ter
ENST00000484298.5:c.6867C>A	ENSP00000478155.1:p.Cys2289Ter
ENST00000613296.4:c.6993C>A	ENSP00000482968.1:p.Cys2331Ter
ENST00000614410.4:c.6993C>A	ENSP00000479094.1:p.Cys2331Ter
ENST00000620466.4:n.796C>A
ENST00000651434.1:c.214C>A
ENST00000682565.1:c.6612C>A	ENSP00000507671.1:p.Cys2204Ter
ENST00000682801.1:c.6612C>A	ENSP00000507862.1:p.Cys2204Ter
ENST00000682859.1:c.6612C>A	ENSP00000508222.1:p.Cys2204Ter
ENST00000683791.1:c.685+21229C>A
ENST00000684197.1:n.1962C>A
ENST00000684460.1:c.4064C>A
ENST00000684548.1:c.6612C>A	ENSP00000507421.1:p.Cys2204Ter
ENST00000684590.1:c.1110C>A	ENSP00000507376.1:p.Cys370Ter
ENST00000684656.1:c.4064C>A