Canonical Allele Identifier: CA394884871

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16263638A>T (hg19) ; chr16:g.16169781A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169781A>T , CM000678.2:g.16169781A>T	GRCh38
NC_000016.9:g.16263638A>T , CM000678.1:g.16263638A>T	GRCh37
NC_000016.8:g.16171139A>T	NCBI36
NG_007558.2:g.58691T>A
NG_007558.3:g.58837T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2860T>A	ENSP00000483331.2:p.Phe954Ile
ENST00000205557.12:c.2860T>A MANE Select	ENSP00000205557.7:p.Phe954Ile
ENST00000205557.11:c.2860T>A	ENSP00000205557.7:p.Phe954Ile
ENST00000456970.6:c.2685T>A	ENSP00000405002.2:n.2685T>A
ENST00000622290.4:c.*69T>A	ENSP00000483331.1:n.*69T>A
NM_001171.5:c.2860T>A	NP_001162.4:p.Phe954Ile
XM_011522479.1:c.2827T>A	XP_011520781.1:p.Phe943Ile
XM_011522480.1:c.2518T>A	XP_011520782.1:p.Phe840Ile
XM_011522481.1:c.2518T>A	XP_011520783.1:p.Phe840Ile
XR_932836.1:n.3095T>A
XR_932837.1:n.3096T>A
XR_932838.1:n.3096T>A
NM_001351800.1:c.2518T>A	NP_001338729.1:p.Phe840Ile
NR_147784.1:n.2722T>A
XM_011522479.2:c.2827T>A	XP_011520781.1:p.Phe943Ile
XM_011522481.3:c.2518T>A	XP_011520783.1:p.Phe840Ile
XM_017023212.1:c.2692T>A	XP_016878701.1:p.Phe898Ile
XM_017023214.1:c.2860T>A	XP_016878703.1:p.Phe954Ile
XM_024450261.1:c.2896T>A	XP_024306029.1:p.Phe966Ile
XR_932836.2:n.3041T>A
XR_932837.3:n.3041T>A
XR_932838.3:n.3041T>A
NM_001171.6:c.2860T>A MANE Select	NP_001162.5:p.Phe954Ile