Canonical Allele Identifier: CA1713713

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450975T>C , CM000664.2:g.73450975T>C	GRCh38
NC_000002.11:g.73678102T>C , CM000664.1:g.73678102T>C	GRCh37
NC_000002.10:g.73531610T>C	NCBI36
NG_011690.1:g.70223T>C , LRG_741:g.70223T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.4067T>C	ENSP00000507671.1:p.Ile1356Thr
ENST00000682801.1:c.4067T>C	ENSP00000507862.1:p.Ile1356Thr
ENST00000682859.1:c.4067T>C	ENSP00000508222.1:p.Ile1356Thr
ENST00000683791.1:c.685+18684T>C
ENST00000684460.1:c.1519T>C
ENST00000684548.1:c.4067T>C	ENSP00000507421.1:p.Ile1356Thr
ENST00000684656.1:c.1519T>C
ENST00000613296.6:c.4448T>C MANE Select	ENSP00000482968.1:p.Ile1483Thr
ENST00000484298.5:c.4322T>C	ENSP00000478155.1:p.Ile1441Thr
ENST00000613296.4:c.4448T>C	ENSP00000482968.1:p.Ile1483Thr
ENST00000614410.4:c.4448T>C	ENSP00000479094.1:p.Ile1483Thr
NM_015120.4:c.4451T>C , LRG_741t1:c.4451T>C	NP_055935.4:p.Ile1484Thr
NM_001378454.1:c.4448T>C MANE Select	NP_001365383.1:p.Ile1483Thr