Canonical Allele Identifier: CA1713874

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73451907C>T , CM000664.2:g.73451907C>T	GRCh38
NC_000002.11:g.73679034C>T , CM000664.1:g.73679034C>T	GRCh37
NC_000002.10:g.73532542C>T	NCBI36
NG_011690.1:g.71155C>T , LRG_741:g.71155C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.5380C>T MANE Select	NP_001365383.1:p.Gln1794Ter
ENST00000613296.6:c.5380C>T MANE Select	ENSP00000482968.1:p.Gln1794Ter
NM_015120.4:c.5383C>T , LRG_741t1:c.5383C>T	NP_055935.4:p.Gln1795Ter
ENST00000423048.5:c.211C>T	ENSP00000399833.1:p.Gln71Ter
ENST00000484298.5:c.5254C>T	ENSP00000478155.1:p.Gln1752Ter
ENST00000613296.4:c.5380C>T	ENSP00000482968.1:p.Gln1794Ter
ENST00000614410.4:c.5380C>T	ENSP00000479094.1:p.Gln1794Ter
ENST00000682565.1:c.4999C>T	ENSP00000507671.1:p.Gln1667Ter
ENST00000682801.1:c.4999C>T	ENSP00000507862.1:p.Gln1667Ter
ENST00000682859.1:c.4999C>T	ENSP00000508222.1:p.Gln1667Ter
ENST00000683791.1:c.685+19616C>T
ENST00000684197.1:n.349C>T
ENST00000684460.1:c.2451C>T
ENST00000684548.1:c.4999C>T	ENSP00000507421.1:p.Gln1667Ter
ENST00000684656.1:c.2451C>T