Canonical Allele Identifier: CA347278222

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73559084G>T , CM000664.2:g.73559084G>T	GRCh38
NC_000002.11:g.73786211G>T , CM000664.1:g.73786211G>T	GRCh37
NC_000002.10:g.73639719G>T	NCBI36
NG_011690.1:g.178332G>T , LRG_741:g.178332G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.10326G>T MANE Select	NP_001365383.1:p.Lys3442Asn
ENST00000613296.6:c.10326G>T MANE Select	ENSP00000482968.1:p.Lys3442Asn
NM_015120.4:c.10329G>T , LRG_741t1:c.10329G>T	NP_055935.4:p.Lys3443Asn
ENST00000423048.5:c.3817G>T	ENSP00000399833.1:n.3817G>T
ENST00000484298.5:c.10200G>T	ENSP00000478155.1:p.Lys3400Asn
ENST00000613296.4:c.10326G>T	ENSP00000482968.1:p.Lys3442Asn
ENST00000614410.4:c.10326G>T	ENSP00000479094.1:p.Lys3442Asn
ENST00000620466.4:n.4129G>T
ENST00000651057.1:c.480G>T	ENSP00000498504.1:p.Lys160Asn
ENST00000651434.1:c.1682G>T
ENST00000652487.1:c.1423G>T
ENST00000682565.1:c.9945G>T	ENSP00000507671.1:p.Lys3315Asn
ENST00000682801.1:c.9945G>T	ENSP00000507862.1:p.Lys3315Asn
ENST00000682859.1:c.9945G>T	ENSP00000508222.1:p.Lys3315Asn
ENST00000683791.1:c.3089+8647G>T
ENST00000684460.1:c.7226G>T
ENST00000684548.1:c.9945G>T	ENSP00000507421.1:p.Lys3315Asn
ENST00000684590.1:c.4392G>T	ENSP00000507376.1:p.Lys1464Asn
ENST00000684656.1:c.7271G>T