Canonical Allele Identifier: CA1261021278

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572557G= , CM000664.2:g.73572557G=	GRCh38
NC_000002.11:g.73799684G= , CM000664.1:g.73799684G=	GRCh37
NC_000002.10:g.73653192G=	NCBI36
NG_011690.1:g.191805G= , LRG_741:g.191805G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10299G=	ENSP00000507671.1:p.Met3433=
ENST00000682801.1:c.10299G=	ENSP00000507862.1:p.Met3433=
ENST00000682859.1:c.10299G=	ENSP00000508222.1:p.Met3433=
ENST00000683791.1:c.3385G=
ENST00000684460.1:c.7580G=
ENST00000684548.1:c.10299G=	ENSP00000507421.1:p.Met3433=
ENST00000684590.1:c.4746G=	ENSP00000507376.1:p.Met1582=
ENST00000684656.1:c.7625G=
ENST00000613296.6:c.10680G= MANE Select	ENSP00000482968.1:p.Met3560=
ENST00000651057.1:c.834G=	ENSP00000498504.1:p.Met278=
ENST00000651434.1:c.2036G=
ENST00000651750.1:c.68G=
ENST00000652487.1:c.1777G=
ENST00000423048.5:c.4171G=	ENSP00000399833.1:n.4171G=
ENST00000484298.5:c.10554G=	ENSP00000478155.1:p.Met3518=
ENST00000613296.4:c.10680G=	ENSP00000482968.1:p.Met3560=
ENST00000614410.4:c.10680G=	ENSP00000479094.1:p.Met3560=
ENST00000620466.4:n.4483G=
NM_015120.4:c.10683G= , LRG_741t1:c.10683G=	NP_055935.4:p.Met3561=
NM_001378454.1:c.10680G= MANE Select	NP_001365383.1:p.Met3560=