Canonical Allele Identifier: CA394881521

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16256964A>G (hg19) ; chr16:g.16163107A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163107A>G , CM000678.2:g.16163107A>G	GRCh38
NC_000016.9:g.16256964A>G , CM000678.1:g.16256964A>G	GRCh37
NC_000016.8:g.16164465A>G	NCBI36
NG_007558.2:g.65365T>C
NG_007558.3:g.65511T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3392T>C	ENSP00000483331.2:p.Phe1131Ser
ENST00000205557.12:c.3392T>C MANE Select	ENSP00000205557.7:p.Phe1131Ser
ENST00000640696.1:c.321-1543T>C	ENSP00000492197.1:n.321-1543T>C
ENST00000205557.11:c.3392T>C	ENSP00000205557.7:p.Phe1131Ser
ENST00000456970.6:c.3132-1543T>C	ENSP00000405002.2:n.3132-1543T>C
ENST00000622290.4:c.*601T>C	ENSP00000483331.1:n.*601T>C
NM_001171.5:c.3392T>C	NP_001162.4:p.Phe1131Ser
XM_011522479.1:c.3359T>C	XP_011520781.1:p.Phe1120Ser
XM_011522480.1:c.3050T>C	XP_011520782.1:p.Phe1017Ser
XM_011522481.1:c.3050T>C	XP_011520783.1:p.Phe1017Ser
XR_932836.1:n.3627T>C
XR_932837.1:n.3543-1543T>C
XR_932838.1:n.3543-1543T>C
XR_933133.1:n.407+264A>G
XR_933134.1:n.754+264A>G
NM_001351800.1:c.3050T>C	NP_001338729.1:p.Phe1017Ser
NR_147784.1:n.3169-1543T>C
XM_011522479.2:c.3359T>C	XP_011520781.1:p.Phe1120Ser
XM_011522481.3:c.3050T>C	XP_011520783.1:p.Phe1017Ser
XM_017023212.1:c.3224T>C	XP_016878701.1:p.Phe1075Ser
XM_017023214.1:c.3307-1543T>C	XP_016878703.1:n.3307-1543T>C
XM_024450261.1:c.3428T>C	XP_024306029.1:p.Phe1143Ser
XR_932836.2:n.3573T>C
XR_932837.3:n.3488-1543T>C
XR_932838.3:n.3488-1543T>C
NM_001171.6:c.3392T>C MANE Select	NP_001162.5:p.Phe1131Ser