Canonical Allele Identifier: CA1715242

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73599398T>C , CM000664.2:g.73599398T>C	GRCh38
NC_000002.11:g.73826525T>C , CM000664.1:g.73826525T>C	GRCh37
NC_000002.10:g.73680033T>C	NCBI36
NG_011690.1:g.218646T>C , LRG_741:g.218646T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11548-3T>C MANE Select	NP_001365383.1:n.11548-3T>C
ENST00000613296.6:c.11548-3T>C MANE Select	ENSP00000482968.1:n.11548-3T>C
NM_015120.4:c.11551-3T>C , LRG_741t1:c.11551-3T>C	NP_055935.4:n.11551-3T>C
ENST00000484298.5:c.11422-3T>C	ENSP00000478155.1:n.11422-3T>C
ENST00000613296.4:c.11548-3T>C	ENSP00000482968.1:n.11548-3T>C
ENST00000620466.4:n.5351-3T>C
ENST00000651057.1:c.1702-3T>C	ENSP00000498504.1:n.1702-3T>C
ENST00000651434.1:c.2904-3T>C
ENST00000651750.1:c.936-3T>C
ENST00000652487.1:c.2768+31T>C
ENST00000682565.1:c.11167-3T>C	ENSP00000507671.1:n.11167-3T>C
ENST00000682801.1:c.11167-2787T>C	ENSP00000507862.1:n.11167-2787T>C
ENST00000682859.1:c.11167-3T>C	ENSP00000508222.1:n.11167-3T>C
ENST00000683791.1:c.4253-3T>C
ENST00000684460.1:c.8448-3T>C
ENST00000684548.1:c.11167-3T>C	ENSP00000507421.1:n.11167-3T>C
ENST00000684590.1:c.5614-3T>C	ENSP00000507376.1:n.5614-3T>C
ENST00000684656.1:c.8632-3T>C