Canonical Allele Identifier: CA347278305

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73559115A>T , CM000664.2:g.73559115A>T	GRCh38
NC_000002.11:g.73786242A>T , CM000664.1:g.73786242A>T	GRCh37
NC_000002.10:g.73639750A>T	NCBI36
NG_011690.1:g.178363A>T , LRG_741:g.178363A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.10357A>T MANE Select	NP_001365383.1:p.Lys3453Ter
ENST00000613296.6:c.10357A>T MANE Select	ENSP00000482968.1:p.Lys3453Ter
NM_015120.4:c.10360A>T , LRG_741t1:c.10360A>T	NP_055935.4:p.Lys3454Ter
ENST00000423048.5:c.3848A>T	ENSP00000399833.1:n.3848A>T
ENST00000484298.5:c.10231A>T	ENSP00000478155.1:p.Lys3411Ter
ENST00000613296.4:c.10357A>T	ENSP00000482968.1:p.Lys3453Ter
ENST00000614410.4:c.10357A>T	ENSP00000479094.1:p.Lys3453Ter
ENST00000620466.4:n.4160A>T
ENST00000651057.1:c.511A>T	ENSP00000498504.1:p.Lys171Ter
ENST00000651434.1:c.1713A>T
ENST00000652487.1:c.1454A>T
ENST00000682565.1:c.9976A>T	ENSP00000507671.1:p.Lys3326Ter
ENST00000682801.1:c.9976A>T	ENSP00000507862.1:p.Lys3326Ter
ENST00000682859.1:c.9976A>T	ENSP00000508222.1:p.Lys3326Ter
ENST00000683791.1:c.3089+8678A>T
ENST00000684460.1:c.7257A>T
ENST00000684548.1:c.9976A>T	ENSP00000507421.1:p.Lys3326Ter
ENST00000684590.1:c.4423A>T	ENSP00000507376.1:p.Lys1475Ter
ENST00000684656.1:c.7302A>T