Canonical Allele Identifier: CA394884524

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248550T>G (hg19) ; chr16:g.16154693T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154693T>G , CM000678.2:g.16154693T>G	GRCh38
NC_000016.9:g.16248550T>G , CM000678.1:g.16248550T>G	GRCh37
NC_000016.8:g.16156051T>G	NCBI36
NG_007558.2:g.73779A>C
NG_007558.3:g.73925A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*315A>C	ENSP00000483331.2:n.*315A>C
ENST00000205557.12:c.4143A>C MANE Select	ENSP00000205557.7:p.Lys1381Asn
ENST00000640696.1:c.957A>C	ENSP00000492197.1:p.Lys319Asn
ENST00000205557.11:c.4143A>C	ENSP00000205557.7:p.Lys1381Asn
ENST00000456970.6:c.3768A>C	ENSP00000405002.2:n.3768A>C
ENST00000576204.5:n.1006A>C
ENST00000622290.4:c.*1352A>C	ENSP00000483331.1:n.*1352A>C
NM_001171.5:c.4143A>C	NP_001162.4:p.Lys1381Asn
XM_011522479.1:c.4110A>C	XP_011520781.1:p.Lys1370Asn
XM_011522480.1:c.3801A>C	XP_011520782.1:p.Lys1267Asn
XM_011522481.1:c.3801A>C	XP_011520783.1:p.Lys1267Asn
XR_933134.1:n.539-5088T>G
NM_001351800.1:c.3801A>C	NP_001338729.1:p.Lys1267Asn
NR_147784.1:n.3805A>C
XM_011522479.2:c.4110A>C	XP_011520781.1:p.Lys1370Asn
XM_011522481.3:c.3801A>C	XP_011520783.1:p.Lys1267Asn
XM_017023212.1:c.3975A>C	XP_016878701.1:p.Lys1325Asn
XM_024450261.1:c.4179A>C	XP_024306029.1:p.Lys1393Asn
NM_001171.6:c.4143A>C MANE Select	NP_001162.5:p.Lys1381Asn