Canonical Allele Identifier: CA1714131

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453358C>A , CM000664.2:g.73453358C>A	GRCh38
NC_000002.11:g.73680485C>A , CM000664.1:g.73680485C>A	GRCh37
NC_000002.10:g.73533993C>A	NCBI36
NG_011690.1:g.72606C>A , LRG_741:g.72606C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.6831C>A MANE Select	NP_001365383.1:p.Cys2277Ter
ENST00000613296.6:c.6831C>A MANE Select	ENSP00000482968.1:p.Cys2277Ter
NM_015120.4:c.6834C>A , LRG_741t1:c.6834C>A	NP_055935.4:p.Cys2278Ter
ENST00000423048.5:c.1662C>A	ENSP00000399833.1:p.Cys554Ter
ENST00000484298.5:c.6705C>A	ENSP00000478155.1:p.Cys2235Ter
ENST00000613296.4:c.6831C>A	ENSP00000482968.1:p.Cys2277Ter
ENST00000614410.4:c.6831C>A	ENSP00000479094.1:p.Cys2277Ter
ENST00000620466.4:n.634C>A
ENST00000651434.1:c.52C>A
ENST00000682565.1:c.6450C>A	ENSP00000507671.1:p.Cys2150Ter
ENST00000682801.1:c.6450C>A	ENSP00000507862.1:p.Cys2150Ter
ENST00000682859.1:c.6450C>A	ENSP00000508222.1:p.Cys2150Ter
ENST00000683791.1:c.685+21067C>A
ENST00000684197.1:n.1800C>A
ENST00000684460.1:c.3902C>A
ENST00000684548.1:c.6450C>A	ENSP00000507421.1:p.Cys2150Ter
ENST00000684590.1:c.948C>A	ENSP00000507376.1:p.Cys316Ter
ENST00000684656.1:c.3902C>A