Canonical Allele Identifier: CA347292695

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73454069T>C , CM000664.2:g.73454069T>C	GRCh38
NC_000002.11:g.73681196T>C , CM000664.1:g.73681196T>C	GRCh37
NC_000002.10:g.73534704T>C	NCBI36
NG_011690.1:g.73317T>C , LRG_741:g.73317T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.7540+2T>C MANE Select	NP_001365383.1:n.7540+2T>C
ENST00000613296.6:c.7540+2T>C MANE Select	ENSP00000482968.1:n.7540+2T>C
NM_015120.4:c.7543+2T>C , LRG_741t1:c.7543+2T>C	NP_055935.4:n.7543+2T>C
ENST00000423048.5:c.2371+2T>C	ENSP00000399833.1:n.2371+2T>C
ENST00000484298.5:c.7414+2T>C	ENSP00000478155.1:n.7414+2T>C
ENST00000613296.4:c.7540+2T>C	ENSP00000482968.1:n.7540+2T>C
ENST00000614410.4:c.7540+2T>C	ENSP00000479094.1:n.7540+2T>C
ENST00000620466.4:n.1343+2T>C
ENST00000651434.1:c.761+2T>C
ENST00000682565.1:c.7159+2T>C	ENSP00000507671.1:n.7159+2T>C
ENST00000682801.1:c.7159+2T>C	ENSP00000507862.1:n.7159+2T>C
ENST00000682859.1:c.7159+2T>C	ENSP00000508222.1:n.7159+2T>C
ENST00000683791.1:c.685+21778T>C
ENST00000684197.1:n.2509+2T>C
ENST00000684460.1:c.4611+2T>C
ENST00000684548.1:c.7159+2T>C	ENSP00000507421.1:n.7159+2T>C
ENST00000684590.1:c.1657+2T>C	ENSP00000507376.1:n.1657+2T>C
ENST00000684656.1:c.4611+2T>C