Canonical Allele Identifier: CA50398535

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453894T>C , CM000664.2:g.73453894T>C	GRCh38
NC_000002.11:g.73681021T>C , CM000664.1:g.73681021T>C	GRCh37
NC_000002.10:g.73534529T>C	NCBI36
NG_011690.1:g.73142T>C , LRG_741:g.73142T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.7367T>C MANE Select	NP_001365383.1:p.Ile2456Thr
ENST00000613296.6:c.7367T>C MANE Select	ENSP00000482968.1:p.Ile2456Thr
NM_015120.4:c.7370T>C , LRG_741t1:c.7370T>C	NP_055935.4:p.Ile2457Thr
ENST00000423048.5:c.2198T>C	ENSP00000399833.1:p.Ile733Thr
ENST00000484298.5:c.7241T>C	ENSP00000478155.1:p.Ile2414Thr
ENST00000613296.4:c.7367T>C	ENSP00000482968.1:p.Ile2456Thr
ENST00000614410.4:c.7367T>C	ENSP00000479094.1:p.Ile2456Thr
ENST00000620466.4:n.1170T>C
ENST00000651434.1:c.588T>C
ENST00000682565.1:c.6986T>C	ENSP00000507671.1:p.Ile2329Thr
ENST00000682801.1:c.6986T>C	ENSP00000507862.1:p.Ile2329Thr
ENST00000682859.1:c.6986T>C	ENSP00000508222.1:p.Ile2329Thr
ENST00000683791.1:c.685+21603T>C
ENST00000684197.1:n.2336T>C
ENST00000684460.1:c.4438T>C
ENST00000684548.1:c.6986T>C	ENSP00000507421.1:p.Ile2329Thr
ENST00000684590.1:c.1484T>C	ENSP00000507376.1:p.Ile495Thr
ENST00000684656.1:c.4438T>C