Canonical Allele Identifier: CA347289504

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453343G>C , CM000664.2:g.73453343G>C	GRCh38
NC_000002.11:g.73680470G>C , CM000664.1:g.73680470G>C	GRCh37
NC_000002.10:g.73533978G>C	NCBI36
NG_011690.1:g.72591G>C , LRG_741:g.72591G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.6816G>C MANE Select	NP_001365383.1:p.Met2272Ile
ENST00000613296.6:c.6816G>C MANE Select	ENSP00000482968.1:p.Met2272Ile
NM_015120.4:c.6819G>C , LRG_741t1:c.6819G>C	NP_055935.4:p.Met2273Ile
ENST00000423048.5:c.1647G>C	ENSP00000399833.1:p.Met549Ile
ENST00000484298.5:c.6690G>C	ENSP00000478155.1:p.Met2230Ile
ENST00000613296.4:c.6816G>C	ENSP00000482968.1:p.Met2272Ile
ENST00000614410.4:c.6816G>C	ENSP00000479094.1:p.Met2272Ile
ENST00000620466.4:n.619G>C
ENST00000651434.1:c.37G>C
ENST00000682565.1:c.6435G>C	ENSP00000507671.1:p.Met2145Ile
ENST00000682801.1:c.6435G>C	ENSP00000507862.1:p.Met2145Ile
ENST00000682859.1:c.6435G>C	ENSP00000508222.1:p.Met2145Ile
ENST00000683791.1:c.685+21052G>C
ENST00000684197.1:n.1785G>C
ENST00000684460.1:c.3887G>C
ENST00000684548.1:c.6435G>C	ENSP00000507421.1:p.Met2145Ile
ENST00000684590.1:c.933G>C	ENSP00000507376.1:p.Met311Ile
ENST00000684656.1:c.3887G>C