Canonical Allele Identifier: CA1714704

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73519819A>C , CM000664.2:g.73519819A>C	GRCh38
NC_000002.11:g.73746946A>C , CM000664.1:g.73746946A>C	GRCh37
NC_000002.10:g.73600454A>C	NCBI36
NG_011690.1:g.139067A>C , LRG_741:g.139067A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9584A>C MANE Select	NP_001365383.1:p.Lys3195Thr
ENST00000613296.6:c.9584A>C MANE Select	ENSP00000482968.1:p.Lys3195Thr
NM_015120.4:c.9587A>C , LRG_741t1:c.9587A>C	NP_055935.4:p.Lys3196Thr
ENST00000423048.5:c.3075A>C	ENSP00000399833.1:n.3075A>C
ENST00000484298.5:c.9458A>C	ENSP00000478155.1:p.Lys3153Thr
ENST00000613296.4:c.9584A>C	ENSP00000482968.1:p.Lys3195Thr
ENST00000614410.4:c.9584A>C	ENSP00000479094.1:p.Lys3195Thr
ENST00000620466.4:n.3387A>C
ENST00000651434.1:c.940A>C
ENST00000652487.1:c.681A>C
ENST00000682565.1:c.9203A>C	ENSP00000507671.1:p.Lys3068Thr
ENST00000682801.1:c.9203A>C	ENSP00000507862.1:p.Lys3068Thr
ENST00000682859.1:c.9203A>C	ENSP00000508222.1:p.Lys3068Thr
ENST00000683791.1:c.2595A>C
ENST00000684460.1:c.6655A>C
ENST00000684548.1:c.9203A>C	ENSP00000507421.1:p.Lys3068Thr
ENST00000684590.1:c.3650A>C	ENSP00000507376.1:p.Lys1217Thr
ENST00000684656.1:c.6655A>C