Canonical Allele Identifier: CA394885499

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16267148T>A (hg19) ; chr16:g.16173291T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16173291T>A , CM000678.2:g.16173291T>A	GRCh38
NC_000016.9:g.16267148T>A , CM000678.1:g.16267148T>A	GRCh37
NC_000016.8:g.16174649T>A	NCBI36
NG_007558.2:g.55181A>T
NG_007558.3:g.55327A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.2780A>T	ENSP00000483331.2:p.Tyr927Phe
ENST00000205557.12:c.2780A>T MANE Select	ENSP00000205557.7:p.Tyr927Phe
ENST00000205557.11:c.2780A>T	ENSP00000205557.7:p.Tyr927Phe
ENST00000456970.6:c.2605A>T	ENSP00000405002.2:p.Thr869Ser
ENST00000576683.1:n.267A>T
ENST00000622290.4:c.2605A>T	ENSP00000483331.1:p.Thr869Ser
NM_001171.5:c.2780A>T	NP_001162.4:p.Tyr927Phe
XM_011522479.1:c.2747A>T	XP_011520781.1:p.Tyr916Phe
XM_011522480.1:c.2438A>T	XP_011520782.1:p.Tyr813Phe
XM_011522481.1:c.2438A>T	XP_011520783.1:p.Tyr813Phe
XR_932836.1:n.3015A>T
XR_932837.1:n.3016A>T
XR_932838.1:n.3016A>T
NM_001351800.1:c.2438A>T	NP_001338729.1:p.Tyr813Phe
NR_147784.1:n.2642A>T
XM_011522479.2:c.2747A>T	XP_011520781.1:p.Tyr916Phe
XM_011522481.3:c.2438A>T	XP_011520783.1:p.Tyr813Phe
XM_017023212.1:c.2612A>T	XP_016878701.1:p.Tyr871Phe
XM_017023214.1:c.2780A>T	XP_016878703.1:p.Tyr927Phe
XM_024450261.1:c.2816A>T	XP_024306029.1:p.Tyr939Phe
XR_932836.2:n.2961A>T
XR_932837.3:n.2961A>T
XR_932838.3:n.2961A>T
NM_001171.6:c.2780A>T MANE Select	NP_001162.5:p.Tyr927Phe