Canonical Allele Identifier: CA426783514

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828365A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601238A>T , CM000664.2:g.73601238A>T	GRCh38
NC_000002.11:g.73828365A>T , CM000664.1:g.73828365A>T	GRCh37
NC_000002.10:g.73681873A>T	NCBI36
NG_011690.1:g.220486A>T , LRG_741:g.220486A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11535A>T	ENSP00000507671.1:p.Ser3845=
ENST00000682801.1:c.11167-947A>T	ENSP00000507862.1:n.11167-947A>T
ENST00000682859.1:c.11535A>T	ENSP00000508222.1:p.Ser3845=
ENST00000683791.1:c.4621A>T
ENST00000684460.1:c.8816A>T
ENST00000684548.1:c.11535A>T	ENSP00000507421.1:p.Ser3845=
ENST00000684590.1:c.5982A>T	ENSP00000507376.1:p.Ser1994=
ENST00000684656.1:c.9000A>T
ENST00000613296.6:c.11916A>T MANE Select	ENSP00000482968.1:p.Ser3972=
ENST00000651057.1:c.2070A>T	ENSP00000498504.1:p.Ser690=
ENST00000651434.1:c.3272A>T
ENST00000651750.1:c.1260+357A>T
ENST00000652487.1:c.3087A>T
ENST00000464408.3:n.91A>T
ENST00000484298.5:c.11790A>T	ENSP00000478155.1:p.Ser3930=
ENST00000613296.4:c.11916A>T	ENSP00000482968.1:p.Ser3972=
ENST00000620466.4:n.5719A>T
NM_015120.4:c.11919A>T , LRG_741t1:c.11919A>T	NP_055935.4:p.Ser3973=
NM_001378454.1:c.11916A>T MANE Select	NP_001365383.1:p.Ser3972=