Canonical Allele Identifier: CA394880601

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16256904T>G (hg19) ; chr16:g.16163047T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163047T>G , CM000678.2:g.16163047T>G	GRCh38
NC_000016.9:g.16256904T>G , CM000678.1:g.16256904T>G	GRCh37
NC_000016.8:g.16164405T>G	NCBI36
NG_007558.2:g.65425A>C
NG_007558.3:g.65571A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3452A>C	ENSP00000483331.2:p.Asn1151Thr
ENST00000205557.12:c.3452A>C MANE Select	ENSP00000205557.7:p.Asn1151Thr
ENST00000640696.1:c.321-1483A>C	ENSP00000492197.1:n.321-1483A>C
ENST00000205557.11:c.3452A>C	ENSP00000205557.7:p.Asn1151Thr
ENST00000456970.6:c.3132-1483A>C	ENSP00000405002.2:n.3132-1483A>C
ENST00000622290.4:c.*661A>C	ENSP00000483331.1:n.*661A>C
NM_001171.5:c.3452A>C	NP_001162.4:p.Asn1151Thr
XM_011522479.1:c.3419A>C	XP_011520781.1:p.Asn1140Thr
XM_011522480.1:c.3110A>C	XP_011520782.1:p.Asn1037Thr
XM_011522481.1:c.3110A>C	XP_011520783.1:p.Asn1037Thr
XR_932836.1:n.3687A>C
XR_932837.1:n.3543-1483A>C
XR_932838.1:n.3543-1483A>C
XR_933133.1:n.407+204T>G
XR_933134.1:n.754+204T>G
NM_001351800.1:c.3110A>C	NP_001338729.1:p.Asn1037Thr
NR_147784.1:n.3169-1483A>C
XM_011522479.2:c.3419A>C	XP_011520781.1:p.Asn1140Thr
XM_011522481.3:c.3110A>C	XP_011520783.1:p.Asn1037Thr
XM_017023212.1:c.3284A>C	XP_016878701.1:p.Asn1095Thr
XM_017023214.1:c.3307-1483A>C	XP_016878703.1:n.3307-1483A>C
XM_024450261.1:c.3488A>C	XP_024306029.1:p.Asn1163Thr
XR_932836.2:n.3633A>C
XR_932837.3:n.3488-1483A>C
XR_932838.3:n.3488-1483A>C
NM_001171.6:c.3452A>C MANE Select	NP_001162.5:p.Asn1151Thr