Canonical Allele Identifier: CA347284393

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799642G>T (hg19) ; chr2:g.73572515G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572515G>T , CM000664.2:g.73572515G>T	GRCh38
NC_000002.11:g.73799642G>T , CM000664.1:g.73799642G>T	GRCh37
NC_000002.10:g.73653150G>T	NCBI36
NG_011690.1:g.191763G>T , LRG_741:g.191763G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10257G>T	ENSP00000507671.1:p.Lys3419Asn
ENST00000682801.1:c.10257G>T	ENSP00000507862.1:p.Lys3419Asn
ENST00000682859.1:c.10257G>T	ENSP00000508222.1:p.Lys3419Asn
ENST00000683791.1:c.3343G>T
ENST00000684460.1:c.7538G>T
ENST00000684548.1:c.10257G>T	ENSP00000507421.1:p.Lys3419Asn
ENST00000684590.1:c.4704G>T	ENSP00000507376.1:p.Lys1568Asn
ENST00000684656.1:c.7583G>T
ENST00000613296.6:c.10638G>T MANE Select	ENSP00000482968.1:p.Lys3546Asn
ENST00000651057.1:c.792G>T	ENSP00000498504.1:p.Lys264Asn
ENST00000651434.1:c.1994G>T
ENST00000651750.1:c.26G>T
ENST00000652487.1:c.1735G>T
ENST00000423048.5:c.4129G>T	ENSP00000399833.1:n.4129G>T
ENST00000484298.5:c.10512G>T	ENSP00000478155.1:p.Lys3504Asn
ENST00000613296.4:c.10638G>T	ENSP00000482968.1:p.Lys3546Asn
ENST00000614410.4:c.10638G>T	ENSP00000479094.1:p.Lys3546Asn
ENST00000620466.4:n.4441G>T
NM_015120.4:c.10641G>T , LRG_741t1:c.10641G>T	NP_055935.4:p.Lys3547Asn
NM_001378454.1:c.10638G>T MANE Select	NP_001365383.1:p.Lys3546Asn