Canonical Allele Identifier: CA347263488

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73534847A>T , CM000664.2:g.73534847A>T	GRCh38
NC_000002.11:g.73761974A>T , CM000664.1:g.73761974A>T	GRCh37
NC_000002.10:g.73615482A>T	NCBI36
NG_011690.1:g.154095A>T , LRG_741:g.154095A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9805A>T MANE Select	NP_001365383.1:p.Lys3269Ter
ENST00000613296.6:c.9805A>T MANE Select	ENSP00000482968.1:p.Lys3269Ter
NM_015120.4:c.9808A>T , LRG_741t1:c.9808A>T	NP_055935.4:p.Lys3270Ter
ENST00000423048.5:c.3296A>T	ENSP00000399833.1:n.3296A>T
ENST00000476650.2:n.96A>T
ENST00000484298.5:c.9679A>T	ENSP00000478155.1:p.Lys3227Ter
ENST00000613296.4:c.9805A>T	ENSP00000482968.1:p.Lys3269Ter
ENST00000614410.4:c.9805A>T	ENSP00000479094.1:p.Lys3269Ter
ENST00000620466.4:n.3608A>T
ENST00000651057.1:c.61+14831A>T	ENSP00000498504.1:n.61+14831A>T
ENST00000651434.1:c.1161A>T
ENST00000652487.1:c.902A>T
ENST00000682565.1:c.9424A>T	ENSP00000507671.1:p.Lys3142Ter
ENST00000682801.1:c.9424A>T	ENSP00000507862.1:p.Lys3142Ter
ENST00000682859.1:c.9424A>T	ENSP00000508222.1:p.Lys3142Ter
ENST00000683791.1:c.2816A>T
ENST00000684460.1:c.6876A>T
ENST00000684548.1:c.9424A>T	ENSP00000507421.1:p.Lys3142Ter
ENST00000684590.1:c.3871A>T	ENSP00000507376.1:p.Lys1291Ter
ENST00000684656.1:c.6852+14831A>T