Canonical Allele Identifier: CA1260981110

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489696T= , CM000664.2:g.73489696T=	GRCh38
NC_000002.11:g.73716823T= , CM000664.1:g.73716823T=	GRCh37
NC_000002.10:g.73570331T=	NCBI36
NG_011690.1:g.108944T= , LRG_741:g.108944T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7356T=	ENSP00000507671.1:p.Ile2452=
ENST00000682801.1:c.7356T=	ENSP00000507862.1:p.Ile2452=
ENST00000682859.1:c.7356T=	ENSP00000508222.1:p.Ile2452=
ENST00000683791.1:c.748T=
ENST00000684460.1:c.4808T=
ENST00000684548.1:c.7356T=	ENSP00000507421.1:p.Ile2452=
ENST00000684590.1:c.1803T=	ENSP00000507376.1:p.Ile601=
ENST00000684656.1:c.4808T=
ENST00000613296.6:c.7737T= MANE Select	ENSP00000482968.1:p.Ile2579=
ENST00000651434.1:c.896-30079T=
ENST00000423048.5:c.2568T=	ENSP00000399833.1:p.Ile856=
ENST00000484298.5:c.7611T=	ENSP00000478155.1:p.Ile2537=
ENST00000613296.4:c.7737T=	ENSP00000482968.1:p.Ile2579=
ENST00000614410.4:c.7737T=	ENSP00000479094.1:p.Ile2579=
ENST00000620466.4:n.1540T=
NM_015120.4:c.7740T= , LRG_741t1:c.7740T=	NP_055935.4:p.Ile2580=
NM_001378454.1:c.7737T= MANE Select	NP_001365383.1:p.Ile2579=