Canonical Allele Identifier: CA347283442

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799536G>T (hg19) ; chr2:g.73572409G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572409G>T , CM000664.2:g.73572409G>T	GRCh38
NC_000002.11:g.73799536G>T , CM000664.1:g.73799536G>T	GRCh37
NC_000002.10:g.73653044G>T	NCBI36
NG_011690.1:g.191657G>T , LRG_741:g.191657G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.10151G>T	ENSP00000507671.1:p.Trp3384Leu
ENST00000682801.1:c.10151G>T	ENSP00000507862.1:p.Trp3384Leu
ENST00000682859.1:c.10151G>T	ENSP00000508222.1:p.Trp3384Leu
ENST00000683791.1:c.3237G>T
ENST00000684460.1:c.7432G>T
ENST00000684548.1:c.10151G>T	ENSP00000507421.1:p.Trp3384Leu
ENST00000684590.1:c.4598G>T	ENSP00000507376.1:p.Trp1533Leu
ENST00000684656.1:c.7477G>T
ENST00000613296.6:c.10532G>T MANE Select	ENSP00000482968.1:p.Trp3511Leu
ENST00000651057.1:c.686G>T	ENSP00000498504.1:p.Trp229Leu
ENST00000651434.1:c.1888G>T
ENST00000652487.1:c.1629G>T
ENST00000423048.5:c.4023G>T	ENSP00000399833.1:n.4023G>T
ENST00000484298.5:c.10406G>T	ENSP00000478155.1:p.Trp3469Leu
ENST00000613296.4:c.10532G>T	ENSP00000482968.1:p.Trp3511Leu
ENST00000614410.4:c.10532G>T	ENSP00000479094.1:p.Trp3511Leu
ENST00000620466.4:n.4335G>T
NM_015120.4:c.10535G>T , LRG_741t1:c.10535G>T	NP_055935.4:p.Trp3512Leu
NM_001378454.1:c.10532G>T MANE Select	NP_001365383.1:p.Trp3511Leu