Canonical Allele Identifier: CA347278528

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450962G>C , CM000664.2:g.73450962G>C	GRCh38
NC_000002.11:g.73678089G>C , CM000664.1:g.73678089G>C	GRCh37
NC_000002.10:g.73531597G>C	NCBI36
NG_011690.1:g.70210G>C , LRG_741:g.70210G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.4435G>C MANE Select	NP_001365383.1:p.Gly1479Arg
ENST00000613296.6:c.4435G>C MANE Select	ENSP00000482968.1:p.Gly1479Arg
NM_015120.4:c.4438G>C , LRG_741t1:c.4438G>C	NP_055935.4:p.Gly1480Arg
ENST00000484298.5:c.4309G>C	ENSP00000478155.1:p.Gly1437Arg
ENST00000613296.4:c.4435G>C	ENSP00000482968.1:p.Gly1479Arg
ENST00000614410.4:c.4435G>C	ENSP00000479094.1:p.Gly1479Arg
ENST00000682565.1:c.4054G>C	ENSP00000507671.1:p.Gly1352Arg
ENST00000682801.1:c.4054G>C	ENSP00000507862.1:p.Gly1352Arg
ENST00000682859.1:c.4054G>C	ENSP00000508222.1:p.Gly1352Arg
ENST00000683791.1:c.685+18671G>C
ENST00000684460.1:c.1506G>C
ENST00000684548.1:c.4054G>C	ENSP00000507421.1:p.Gly1352Arg
ENST00000684656.1:c.1506G>C