Canonical Allele Identifier: CA3226136

Gene: AMACR C1QTNF3-AMACR

Linked Data

• dbSNP Id: rs551357353
• ExAC: 5:33998756 C / T
• gnomAD v2: 5-33998756-C-T
• gnomAD v3: 5-33998651-C-T
• gnomAD v4: 5-33998651-C-T
• MyVariant Identifiers: chr5:g.33998756C>T (hg19) ; chr5:g.33998651C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33998651C>T , CM000667.2:g.33998651C>T	GRCh38
NC_000005.9:g.33998756C>T , CM000667.1:g.33998756C>T	GRCh37
NC_000005.8:g.34034513C>T	NCBI36
NG_016211.1:g.14465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335606.11:c.729G>A (AMACR) MANE Select	ENSP00000334424.6:p.Leu243=
ENST00000335606.10:c.729G>A (AMACR)	ENSP00000334424.6:p.Leu243=
ENST00000382068.3:c.568G>A (AMACR)	ENSP00000477108.1:p.Ala190Thr
ENST00000382072.6:c.568G>A (AMACR)	ENSP00000371504.2:p.Ala190Thr
ENST00000382079.3:c.*155G>A (C1QTNF3-AMACR)	ENSP00000371511.3:n.*155G>A
ENST00000382085.7:c.729G>A (AMACR)	ENSP00000371517.3:p.Leu243=
ENST00000426255.6:c.729G>A (AMACR)	ENSP00000476965.1:p.Leu243=
ENST00000502637.5:c.684G>A (AMACR)	ENSP00000424351.1:p.Leu228=
ENST00000506639.5:c.568G>A (AMACR)	ENSP00000427227.1:p.Ala190Thr
ENST00000512079.5:c.729G>A (AMACR)	ENSP00000477411.1:p.Leu243=
ENST00000514195.1:n.580G>A (AMACR)
NM_001167595.1:c.729G>A (AMACR)	NP_001161067.1:p.Leu243=
NM_014324.5:c.729G>A (AMACR)	NP_055139.4:p.Leu243=
NM_203382.2:c.568G>A (AMACR)	NP_976316.1:p.Ala190Thr
NR_037951.1:n.1085G>A (C1QTNF3-AMACR)
NM_014324.6:c.729G>A (AMACR) MANE Select	NP_055139.4:p.Leu243=
NM_001167595.2:c.729G>A (AMACR)	NP_001161067.1:p.Leu243=
NM_203382.3:c.568G>A (AMACR)	NP_976316.1:p.Ala190Thr