Canonical Allele Identifier: CA347284659

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799675A>T (hg19) ; chr2:g.73572548A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572548A>T , CM000664.2:g.73572548A>T	GRCh38
NC_000002.11:g.73799675A>T , CM000664.1:g.73799675A>T	GRCh37
NC_000002.10:g.73653183A>T	NCBI36
NG_011690.1:g.191796A>T , LRG_741:g.191796A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10290A>T	ENSP00000507671.1:p.Lys3430Asn
ENST00000682801.1:c.10290A>T	ENSP00000507862.1:p.Lys3430Asn
ENST00000682859.1:c.10290A>T	ENSP00000508222.1:p.Lys3430Asn
ENST00000683791.1:c.3376A>T
ENST00000684460.1:c.7571A>T
ENST00000684548.1:c.10290A>T	ENSP00000507421.1:p.Lys3430Asn
ENST00000684590.1:c.4737A>T	ENSP00000507376.1:p.Lys1579Asn
ENST00000684656.1:c.7616A>T
ENST00000613296.6:c.10671A>T MANE Select	ENSP00000482968.1:p.Lys3557Asn
ENST00000651057.1:c.825A>T	ENSP00000498504.1:p.Lys275Asn
ENST00000651434.1:c.2027A>T
ENST00000651750.1:c.59A>T
ENST00000652487.1:c.1768A>T
ENST00000423048.5:c.4162A>T	ENSP00000399833.1:n.4162A>T
ENST00000484298.5:c.10545A>T	ENSP00000478155.1:p.Lys3515Asn
ENST00000613296.4:c.10671A>T	ENSP00000482968.1:p.Lys3557Asn
ENST00000614410.4:c.10671A>T	ENSP00000479094.1:p.Lys3557Asn
ENST00000620466.4:n.4474A>T
NM_015120.4:c.10674A>T , LRG_741t1:c.10674A>T	NP_055935.4:p.Lys3558Asn
NM_001378454.1:c.10671A>T MANE Select	NP_001365383.1:p.Lys3557Asn