Canonical Allele Identifier: CA427024066

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799912T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572785T>C , CM000664.2:g.73572785T>C	GRCh38
NC_000002.11:g.73799912T>C , CM000664.1:g.73799912T>C	GRCh37
NC_000002.10:g.73653420T>C	NCBI36
NG_011690.1:g.192033T>C , LRG_741:g.192033T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10527T>C	ENSP00000507671.1:p.Leu3509=
ENST00000682801.1:c.10527T>C	ENSP00000507862.1:p.Leu3509=
ENST00000682859.1:c.10527T>C	ENSP00000508222.1:p.Leu3509=
ENST00000683791.1:c.3613T>C
ENST00000684460.1:c.7808T>C
ENST00000684548.1:c.10527T>C	ENSP00000507421.1:p.Leu3509=
ENST00000684590.1:c.4974T>C	ENSP00000507376.1:p.Leu1658=
ENST00000684656.1:c.7853T>C
ENST00000613296.6:c.10908T>C MANE Select	ENSP00000482968.1:p.Leu3636=
ENST00000651057.1:c.1062T>C	ENSP00000498504.1:p.Leu354=
ENST00000651434.1:c.2264T>C
ENST00000651750.1:c.296T>C
ENST00000652487.1:c.2005T>C
ENST00000423048.5:c.4399T>C	ENSP00000399833.1:n.4399T>C
ENST00000484298.5:c.10782T>C	ENSP00000478155.1:p.Leu3594=
ENST00000613296.4:c.10908T>C	ENSP00000482968.1:p.Leu3636=
ENST00000614410.4:c.10908T>C	ENSP00000479094.1:p.Leu3636=
ENST00000620466.4:n.4711T>C
NM_015120.4:c.10911T>C , LRG_741t1:c.10911T>C	NP_055935.4:p.Leu3637=
NM_001378454.1:c.10908T>C MANE Select	NP_001365383.1:p.Leu3636=