Canonical Allele Identifier: CA394887527

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16271321T>A (hg19) ; chr16:g.16177464T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16177464T>A , CM000678.2:g.16177464T>A	GRCh38
NC_000016.9:g.16271321T>A , CM000678.1:g.16271321T>A	GRCh37
NC_000016.8:g.16178822T>A	NCBI36
NG_007558.2:g.51008A>T
NG_007558.3:g.51154A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2578A>T	ENSP00000483331.2:p.Arg860Ter
ENST00000205557.12:c.2578A>T MANE Select	ENSP00000205557.7:p.Arg860Ter
ENST00000205557.11:c.2578A>T	ENSP00000205557.7:p.Arg860Ter
ENST00000456970.6:c.2415+1334A>T	ENSP00000405002.2:n.2415+1334A>T
ENST00000576683.1:n.58A>T
ENST00000622290.4:c.2415+1334A>T	ENSP00000483331.1:n.2415+1334A>T
NM_001171.5:c.2578A>T	NP_001162.4:p.Arg860Ter
XM_011522479.1:c.2545A>T	XP_011520781.1:p.Arg849Ter
XM_011522480.1:c.2236A>T	XP_011520782.1:p.Arg746Ter
XM_011522481.1:c.2236A>T	XP_011520783.1:p.Arg746Ter
XM_011522482.1:c.2578A>T	XP_011520784.1:p.Arg860Ter
XR_932836.1:n.2813A>T
XR_932837.1:n.2814A>T
XR_932838.1:n.2814A>T
NM_001351800.1:c.2236A>T	NP_001338729.1:p.Arg746Ter
NR_147784.1:n.2452+1334A>T
XM_011522479.2:c.2545A>T	XP_011520781.1:p.Arg849Ter
XM_011522481.3:c.2236A>T	XP_011520783.1:p.Arg746Ter
XM_011522482.3:c.2578A>T	XP_011520784.1:p.Arg860Ter
XM_017023212.1:c.2410A>T	XP_016878701.1:p.Arg804Ter
XM_017023214.1:c.2578A>T	XP_016878703.1:p.Arg860Ter
XM_024450261.1:c.2614A>T	XP_024306029.1:p.Arg872Ter
XR_932836.2:n.2759A>T
XR_932837.3:n.2759A>T
XR_932838.3:n.2759A>T
NM_001171.6:c.2578A>T MANE Select	NP_001162.5:p.Arg860Ter