Canonical Allele Identifier: CA347284625

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799673A>C (hg19) ; chr2:g.73572546A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572546A>C , CM000664.2:g.73572546A>C	GRCh38
NC_000002.11:g.73799673A>C , CM000664.1:g.73799673A>C	GRCh37
NC_000002.10:g.73653181A>C	NCBI36
NG_011690.1:g.191794A>C , LRG_741:g.191794A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10288A>C	ENSP00000507671.1:p.Lys3430Gln
ENST00000682801.1:c.10288A>C	ENSP00000507862.1:p.Lys3430Gln
ENST00000682859.1:c.10288A>C	ENSP00000508222.1:p.Lys3430Gln
ENST00000683791.1:c.3374A>C
ENST00000684460.1:c.7569A>C
ENST00000684548.1:c.10288A>C	ENSP00000507421.1:p.Lys3430Gln
ENST00000684590.1:c.4735A>C	ENSP00000507376.1:p.Lys1579Gln
ENST00000684656.1:c.7614A>C
ENST00000613296.6:c.10669A>C MANE Select	ENSP00000482968.1:p.Lys3557Gln
ENST00000651057.1:c.823A>C	ENSP00000498504.1:p.Lys275Gln
ENST00000651434.1:c.2025A>C
ENST00000651750.1:c.57A>C
ENST00000652487.1:c.1766A>C
ENST00000423048.5:c.4160A>C	ENSP00000399833.1:n.4160A>C
ENST00000484298.5:c.10543A>C	ENSP00000478155.1:p.Lys3515Gln
ENST00000613296.4:c.10669A>C	ENSP00000482968.1:p.Lys3557Gln
ENST00000614410.4:c.10669A>C	ENSP00000479094.1:p.Lys3557Gln
ENST00000620466.4:n.4472A>C
NM_015120.4:c.10672A>C , LRG_741t1:c.10672A>C	NP_055935.4:p.Lys3558Gln
NM_001378454.1:c.10669A>C MANE Select	NP_001365383.1:p.Lys3557Gln