Canonical Allele Identifier: CA1260981571

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490146C= , CM000664.2:g.73490146C=	GRCh38
NC_000002.11:g.73717273C= , CM000664.1:g.73717273C=	GRCh37
NC_000002.10:g.73570781C=	NCBI36
NG_011690.1:g.109394C= , LRG_741:g.109394C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7806C=	ENSP00000507671.1:p.Ser2602=
ENST00000682801.1:c.7806C=	ENSP00000507862.1:p.Ser2602=
ENST00000682859.1:c.7806C=	ENSP00000508222.1:p.Ser2602=
ENST00000683791.1:c.1198C=
ENST00000684460.1:c.5258C=
ENST00000684548.1:c.7806C=	ENSP00000507421.1:p.Ser2602=
ENST00000684590.1:c.2253C=	ENSP00000507376.1:p.Ser751=
ENST00000684656.1:c.5258C=
ENST00000613296.6:c.8187C= MANE Select	ENSP00000482968.1:p.Ser2729=
ENST00000651434.1:c.896-29629C=
ENST00000423048.5:c.3018C=	ENSP00000399833.1:p.Ser1006=
ENST00000484298.5:c.8061C=	ENSP00000478155.1:p.Ser2687=
ENST00000613296.4:c.8187C=	ENSP00000482968.1:p.Ser2729=
ENST00000614410.4:c.8187C=	ENSP00000479094.1:p.Ser2729=
ENST00000620466.4:n.1990C=
NM_015120.4:c.8190C= , LRG_741t1:c.8190C=	NP_055935.4:p.Ser2730=
NM_001378454.1:c.8187C= MANE Select	NP_001365383.1:p.Ser2729=