Canonical Allele Identifier: CA1261033982

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601369A= , CM000664.2:g.73601369A=	GRCh38
NC_000002.11:g.73828496A= , CM000664.1:g.73828496A=	GRCh37
NC_000002.10:g.73682004A=	NCBI36
NG_011690.1:g.220617A= , LRG_741:g.220617A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11666A=	ENSP00000507671.1:p.Tyr3889=
ENST00000682801.1:c.11167-816A=	ENSP00000507862.1:n.11167-816A=
ENST00000682859.1:c.11666A=	ENSP00000508222.1:p.Tyr3889=
ENST00000683791.1:c.4752A=
ENST00000684460.1:c.8947A=
ENST00000684548.1:c.11666A=	ENSP00000507421.1:p.Tyr3889=
ENST00000684590.1:c.6113A=	ENSP00000507376.1:p.Tyr2038=
ENST00000684656.1:c.9131A=
ENST00000613296.6:c.12047A= MANE Select	ENSP00000482968.1:p.Tyr4016=
ENST00000651057.1:c.2201A=	ENSP00000498504.1:p.Tyr734=
ENST00000651434.1:c.3403A=
ENST00000651750.1:c.1260+488A=
ENST00000652487.1:c.3218A=
ENST00000464408.3:n.222A=
ENST00000484298.5:c.11921A=	ENSP00000478155.1:p.Tyr3974=
ENST00000613296.4:c.12047A=	ENSP00000482968.1:p.Tyr4016=
ENST00000620466.4:n.5850A=
NM_015120.4:c.12050A= , LRG_741t1:c.12050A=	NP_055935.4:p.Tyr4017=
NM_001378454.1:c.12047A= MANE Select	NP_001365383.1:p.Tyr4016=