Canonical Allele Identifier: CA347284848

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799695A>C (hg19) ; chr2:g.73572568A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572568A>C , CM000664.2:g.73572568A>C	GRCh38
NC_000002.11:g.73799695A>C , CM000664.1:g.73799695A>C	GRCh37
NC_000002.10:g.73653203A>C	NCBI36
NG_011690.1:g.191816A>C , LRG_741:g.191816A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10310A>C	ENSP00000507671.1:p.Lys3437Thr
ENST00000682801.1:c.10310A>C	ENSP00000507862.1:p.Lys3437Thr
ENST00000682859.1:c.10310A>C	ENSP00000508222.1:p.Lys3437Thr
ENST00000683791.1:c.3396A>C
ENST00000684460.1:c.7591A>C
ENST00000684548.1:c.10310A>C	ENSP00000507421.1:p.Lys3437Thr
ENST00000684590.1:c.4757A>C	ENSP00000507376.1:p.Lys1586Thr
ENST00000684656.1:c.7636A>C
ENST00000613296.6:c.10691A>C MANE Select	ENSP00000482968.1:p.Lys3564Thr
ENST00000651057.1:c.845A>C	ENSP00000498504.1:p.Lys282Thr
ENST00000651434.1:c.2047A>C
ENST00000651750.1:c.79A>C
ENST00000652487.1:c.1788A>C
ENST00000423048.5:c.4182A>C	ENSP00000399833.1:n.4182A>C
ENST00000484298.5:c.10565A>C	ENSP00000478155.1:p.Lys3522Thr
ENST00000613296.4:c.10691A>C	ENSP00000482968.1:p.Lys3564Thr
ENST00000614410.4:c.10691A>C	ENSP00000479094.1:p.Lys3564Thr
ENST00000620466.4:n.4494A>C
NM_015120.4:c.10694A>C , LRG_741t1:c.10694A>C	NP_055935.4:p.Lys3565Thr
NM_001378454.1:c.10691A>C MANE Select	NP_001365383.1:p.Lys3564Thr