Canonical Allele Identifier: CA1260981240

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489977A= , CM000664.2:g.73489977A=	GRCh38
NC_000002.11:g.73717104A= , CM000664.1:g.73717104A=	GRCh37
NC_000002.10:g.73570612A=	NCBI36
NG_011690.1:g.109225A= , LRG_741:g.109225A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7637A=	ENSP00000507671.1:p.Asp2546=
ENST00000682801.1:c.7637A=	ENSP00000507862.1:p.Asp2546=
ENST00000682859.1:c.7637A=	ENSP00000508222.1:p.Asp2546=
ENST00000683791.1:c.1029A=
ENST00000684460.1:c.5089A=
ENST00000684548.1:c.7637A=	ENSP00000507421.1:p.Asp2546=
ENST00000684590.1:c.2084A=	ENSP00000507376.1:p.Asp695=
ENST00000684656.1:c.5089A=
ENST00000613296.6:c.8018A= MANE Select	ENSP00000482968.1:p.Asp2673=
ENST00000651434.1:c.896-29798A=
ENST00000423048.5:c.2849A=	ENSP00000399833.1:p.Asp950=
ENST00000484298.5:c.7892A=	ENSP00000478155.1:p.Asp2631=
ENST00000613296.4:c.8018A=	ENSP00000482968.1:p.Asp2673=
ENST00000614410.4:c.8018A=	ENSP00000479094.1:p.Asp2673=
ENST00000620466.4:n.1821A=
NM_015120.4:c.8021A= , LRG_741t1:c.8021A=	NP_055935.4:p.Asp2674=
NM_001378454.1:c.8018A= MANE Select	NP_001365383.1:p.Asp2673=