Canonical Allele Identifier: CA426765250

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73716790C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489663C>T , CM000664.2:g.73489663C>T	GRCh38
NC_000002.11:g.73716790C>T , CM000664.1:g.73716790C>T	GRCh37
NC_000002.10:g.73570298C>T	NCBI36
NG_011690.1:g.108911C>T , LRG_741:g.108911C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7323C>T	ENSP00000507671.1:p.Cys2441=
ENST00000682801.1:c.7323C>T	ENSP00000507862.1:p.Cys2441=
ENST00000682859.1:c.7323C>T	ENSP00000508222.1:p.Cys2441=
ENST00000683791.1:c.715C>T
ENST00000684460.1:c.4775C>T
ENST00000684548.1:c.7323C>T	ENSP00000507421.1:p.Cys2441=
ENST00000684590.1:c.1770C>T	ENSP00000507376.1:p.Cys590=
ENST00000684656.1:c.4775C>T
ENST00000613296.6:c.7704C>T MANE Select	ENSP00000482968.1:p.Cys2568=
ENST00000651434.1:c.896-30112C>T
ENST00000423048.5:c.2535C>T	ENSP00000399833.1:p.Cys845=
ENST00000484298.5:c.7578C>T	ENSP00000478155.1:p.Cys2526=
ENST00000613296.4:c.7704C>T	ENSP00000482968.1:p.Cys2568=
ENST00000614410.4:c.7704C>T	ENSP00000479094.1:p.Cys2568=
ENST00000620466.4:n.1507C>T
NM_015120.4:c.7707C>T , LRG_741t1:c.7707C>T	NP_055935.4:p.Cys2569=
NM_001378454.1:c.7704C>T MANE Select	NP_001365383.1:p.Cys2568=