Canonical Allele Identifier: CA151767

Gene: AMACR C1QTNF3-AMACR

Linked Data

• ClinVar Variation Id: 128360
• ClinVar RCV Id: RCV000116324 ; RCV000302812 ; RCV000368392 ; RCV000676064 ; RCV001549127
• dbSNP Id: rs2278008
• ExAC: 5:33989518 C / T
• gnomAD v2: 5-33989518-C-T
• gnomAD v3: 5-33989413-C-T
• gnomAD v4: 5-33989413-C-T
• MyVariant Identifiers: chr5:g.33989518C>T (hg19) ; chr5:g.33989413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33989413C>T , CM000667.2:g.33989413C>T	GRCh38
NC_000005.9:g.33989518C>T , CM000667.1:g.33989518C>T	GRCh37
NC_000005.8:g.34025275C>T	NCBI36
NG_011691.2:g.263G>A
NG_016211.1:g.23703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335606.11:c.829G>A (AMACR) MANE Select	ENSP00000334424.6:p.Glu277Lys
ENST00000335606.10:c.829G>A (AMACR)	ENSP00000334424.6:p.Glu277Lys
ENST00000382072.6:c.*71G>A (AMACR)	ENSP00000371504.2:n.*71G>A
ENST00000382079.3:c.*255G>A (C1QTNF3-AMACR)	ENSP00000371511.3:n.*255G>A
ENST00000382085.7:c.829G>A (AMACR)	ENSP00000371517.3:p.Glu277Lys
ENST00000502637.5:c.784G>A (AMACR)	ENSP00000424351.1:p.Glu262Lys
ENST00000506639.5:c.*151G>A (AMACR)	ENSP00000427227.1:n.*151G>A
ENST00000514195.1:n.723G>A (AMACR)
NM_001167595.1:c.829G>A (AMACR)	NP_001161067.1:p.Glu277Lys
NM_014324.5:c.829G>A (AMACR)	NP_055139.4:p.Glu277Lys
NM_203382.2:c.*71G>A (AMACR)	NP_976316.1:n.*71G>A
NR_037951.1:n.1185G>A (C1QTNF3-AMACR)
NM_014324.6:c.829G>A (AMACR) MANE Select	NP_055139.4:p.Glu277Lys
NM_001167595.2:c.829G>A (AMACR)	NP_001161067.1:p.Glu277Lys
NM_203382.3:c.*71G>A (AMACR)	NP_976316.1:n.*71G>A