Canonical Allele Identifier: CA347290818

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73573426T>C , CM000664.2:g.73573426T>C	GRCh38
NC_000002.11:g.73800553T>C , CM000664.1:g.73800553T>C	GRCh37
NC_000002.10:g.73654061T>C	NCBI36
NG_011690.1:g.192674T>C , LRG_741:g.192674T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11547+2T>C MANE Select	NP_001365383.1:n.11547+2T>C
ENST00000613296.6:c.11547+2T>C MANE Select	ENSP00000482968.1:n.11547+2T>C
NM_015120.4:c.11550+2T>C , LRG_741t1:c.11550+2T>C	NP_055935.4:n.11550+2T>C
ENST00000423048.5:c.5040T>C	ENSP00000399833.1:n.5040T>C
ENST00000484298.5:c.11421+2T>C	ENSP00000478155.1:n.11421+2T>C
ENST00000613296.4:c.11547+2T>C	ENSP00000482968.1:n.11547+2T>C
ENST00000614410.4:c.11549T>C	ENSP00000479094.1:p.Val3850Ala
ENST00000620466.4:n.5350+2T>C
ENST00000651057.1:c.1701+2T>C	ENSP00000498504.1:n.1701+2T>C
ENST00000651434.1:c.2903+2T>C
ENST00000651750.1:c.935+2T>C
ENST00000652487.1:c.2644+2T>C
ENST00000682565.1:c.11166+2T>C	ENSP00000507671.1:n.11166+2T>C
ENST00000682801.1:c.11166+2T>C	ENSP00000507862.1:n.11166+2T>C
ENST00000682859.1:c.11166+2T>C	ENSP00000508222.1:n.11166+2T>C
ENST00000683791.1:c.4252+2T>C
ENST00000684460.1:c.8447+2T>C
ENST00000684548.1:c.11166+2T>C	ENSP00000507421.1:n.11166+2T>C
ENST00000684590.1:c.5613+2T>C	ENSP00000507376.1:n.5613+2T>C
ENST00000684656.1:c.8492+2T>C