Canonical Allele Identifier: CA359381205

Gene: AMACR C1QTNF3-AMACR

Linked Data

• ClinVar Variation Id: 1358927
• ClinVar RCV Id: RCV001872126 ; RCV002261397
• dbSNP Id: rs778295213
• MyVariant Identifiers: chr5:g.33998772G>A (hg19) ; chr5:g.33998667G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33998667G>A , CM000667.2:g.33998667G>A	GRCh38
NC_000005.9:g.33998772G>A , CM000667.1:g.33998772G>A	GRCh37
NC_000005.8:g.34034529G>A	NCBI36
NG_016211.1:g.14449C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335606.11:c.713C>T (AMACR) MANE Select	ENSP00000334424.6:p.Pro238Leu
ENST00000335606.10:c.713C>T (AMACR)	ENSP00000334424.6:p.Pro238Leu
ENST00000382068.3:c.552C>T (AMACR)	ENSP00000477108.1:p.Thr184=
ENST00000382072.6:c.552C>T (AMACR)	ENSP00000371504.2:p.Thr184=
ENST00000382079.3:c.*139C>T (C1QTNF3-AMACR)	ENSP00000371511.3:n.*139C>T
ENST00000382085.7:c.713C>T (AMACR)	ENSP00000371517.3:p.Pro238Leu
ENST00000426255.6:c.713C>T (AMACR)	ENSP00000476965.1:p.Pro238Leu
ENST00000502637.5:c.668C>T (AMACR)	ENSP00000424351.1:p.Pro223Leu
ENST00000506639.5:c.552C>T (AMACR)	ENSP00000427227.1:p.Thr184=
ENST00000512079.5:c.713C>T (AMACR)	ENSP00000477411.1:p.Pro238Leu
ENST00000514195.1:n.564C>T (AMACR)
NM_001167595.1:c.713C>T (AMACR)	NP_001161067.1:p.Pro238Leu
NM_014324.5:c.713C>T (AMACR)	NP_055139.4:p.Pro238Leu
NM_203382.2:c.552C>T (AMACR)	NP_976316.1:p.Thr184=
NR_037951.1:n.1069C>T (C1QTNF3-AMACR)
NM_014324.6:c.713C>T (AMACR) MANE Select	NP_055139.4:p.Pro238Leu
NM_001167595.2:c.713C>T (AMACR)	NP_001161067.1:p.Pro238Leu
NM_203382.3:c.552C>T (AMACR)	NP_976316.1:p.Thr184=