Canonical Allele Identifier: CA347286885

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73800018A>C (hg19) ; chr2:g.73572891A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572891A>C , CM000664.2:g.73572891A>C	GRCh38
NC_000002.11:g.73800018A>C , CM000664.1:g.73800018A>C	GRCh37
NC_000002.10:g.73653526A>C	NCBI36
NG_011690.1:g.192139A>C , LRG_741:g.192139A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10633A>C	ENSP00000507671.1:p.Lys3545Gln
ENST00000682801.1:c.10633A>C	ENSP00000507862.1:p.Lys3545Gln
ENST00000682859.1:c.10633A>C	ENSP00000508222.1:p.Lys3545Gln
ENST00000683791.1:c.3719A>C
ENST00000684460.1:c.7914A>C
ENST00000684548.1:c.10633A>C	ENSP00000507421.1:p.Lys3545Gln
ENST00000684590.1:c.5080A>C	ENSP00000507376.1:p.Lys1694Gln
ENST00000684656.1:c.7959A>C
ENST00000613296.6:c.11014A>C MANE Select	ENSP00000482968.1:p.Lys3672Gln
ENST00000651057.1:c.1168A>C	ENSP00000498504.1:p.Lys390Gln
ENST00000651434.1:c.2370A>C
ENST00000651750.1:c.402A>C
ENST00000652487.1:c.2111A>C
ENST00000423048.5:c.4505A>C	ENSP00000399833.1:n.4505A>C
ENST00000484298.5:c.10888A>C	ENSP00000478155.1:p.Lys3630Gln
ENST00000613296.4:c.11014A>C	ENSP00000482968.1:p.Lys3672Gln
ENST00000614410.4:c.11014A>C	ENSP00000479094.1:p.Lys3672Gln
ENST00000620466.4:n.4817A>C
NM_015120.4:c.11017A>C , LRG_741t1:c.11017A>C	NP_055935.4:p.Lys3673Gln
NM_001378454.1:c.11014A>C MANE Select	NP_001365383.1:p.Lys3672Gln