Canonical Allele Identifier: CA16603312

Gene: AMACR C1QTNF3-AMACR

Linked Data

• ClinVar Variation Id: 377239
• ClinVar RCV Id: RCV000442238 ; RCV002524732
• dbSNP Id: rs1057520170
• gnomAD v2: 5-34004786-G-T
• gnomAD v4: 5-34004681-G-T
• MyVariant Identifiers: chr5:g.34004786G>T (hg19) ; chr5:g.34004681G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34004681G>T , CM000667.2:g.34004681G>T	GRCh38
NC_000005.9:g.34004786G>T , CM000667.1:g.34004786G>T	GRCh37
NC_000005.8:g.34040543G>T	NCBI36
NG_016211.1:g.8435C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000335606.11:c.445C>A (AMACR) MANE Select	ENSP00000334424.6:p.Leu149Ile
ENST00000335606.10:c.445C>A (AMACR)	ENSP00000334424.6:p.Leu149Ile
ENST00000382068.3:c.391+1075C>A (AMACR)	ENSP00000477108.1:n.391+1075C>A
ENST00000382072.6:c.391+1075C>A (AMACR)	ENSP00000371504.2:n.391+1075C>A
ENST00000382079.3:c.833+1075C>A (C1QTNF3-AMACR)	ENSP00000371511.3:n.833+1075C>A
ENST00000382085.7:c.445C>A (AMACR)	ENSP00000371517.3:p.Leu149Ile
ENST00000426255.6:c.445C>A (AMACR)	ENSP00000476965.1:p.Leu149Ile
ENST00000502637.5:c.445C>A (AMACR)	ENSP00000424351.1:p.Leu149Ile
ENST00000506639.5:c.391+1075C>A (AMACR)	ENSP00000427227.1:n.391+1075C>A
ENST00000512079.5:c.445C>A (AMACR)	ENSP00000477411.1:p.Leu149Ile
ENST00000514195.1:n.403+1075C>A (AMACR)
NM_001167595.1:c.445C>A (AMACR)	NP_001161067.1:p.Leu149Ile
NM_014324.5:c.445C>A (AMACR)	NP_055139.4:p.Leu149Ile
NM_203382.2:c.391+1075C>A (AMACR)	NP_976316.1:n.391+1075C>A
NR_037951.1:n.908+1075C>A (C1QTNF3-AMACR)
NM_014324.6:c.445C>A (AMACR) MANE Select	NP_055139.4:p.Leu149Ile
NM_001167595.2:c.445C>A (AMACR)	NP_001161067.1:p.Leu149Ile
NM_203382.3:c.391+1075C>A (AMACR)	NP_976316.1:n.391+1075C>A