Canonical Allele Identifier: CA347285830

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572721-C-T
• MyVariant Identifiers: chr2:g.73799848C>T (hg19) ; chr2:g.73572721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572721C>T , CM000664.2:g.73572721C>T	GRCh38
NC_000002.11:g.73799848C>T , CM000664.1:g.73799848C>T	GRCh37
NC_000002.10:g.73653356C>T	NCBI36
NG_011690.1:g.191969C>T , LRG_741:g.191969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10463C>T	ENSP00000507671.1:p.Pro3488Leu
ENST00000682801.1:c.10463C>T	ENSP00000507862.1:p.Pro3488Leu
ENST00000682859.1:c.10463C>T	ENSP00000508222.1:p.Pro3488Leu
ENST00000683791.1:c.3549C>T
ENST00000684460.1:c.7744C>T
ENST00000684548.1:c.10463C>T	ENSP00000507421.1:p.Pro3488Leu
ENST00000684590.1:c.4910C>T	ENSP00000507376.1:p.Pro1637Leu
ENST00000684656.1:c.7789C>T
ENST00000613296.6:c.10844C>T MANE Select	ENSP00000482968.1:p.Pro3615Leu
ENST00000651057.1:c.998C>T	ENSP00000498504.1:p.Pro333Leu
ENST00000651434.1:c.2200C>T
ENST00000651750.1:c.232C>T
ENST00000652487.1:c.1941C>T
ENST00000423048.5:c.4335C>T	ENSP00000399833.1:n.4335C>T
ENST00000484298.5:c.10718C>T	ENSP00000478155.1:p.Pro3573Leu
ENST00000613296.4:c.10844C>T	ENSP00000482968.1:p.Pro3615Leu
ENST00000614410.4:c.10844C>T	ENSP00000479094.1:p.Pro3615Leu
ENST00000620466.4:n.4647C>T
NM_015120.4:c.10847C>T , LRG_741t1:c.10847C>T	NP_055935.4:p.Pro3616Leu
NM_001378454.1:c.10844C>T MANE Select	NP_001365383.1:p.Pro3615Leu