Canonical Allele Identifier: CA394890876

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16297277T>A (hg19) ; chr16:g.16203420T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16203420T>A , CM000678.2:g.16203420T>A	GRCh38
NC_000016.9:g.16297277T>A , CM000678.1:g.16297277T>A	GRCh37
NC_000016.8:g.16204778T>A	NCBI36
NG_007558.2:g.25052A>T
NG_007558.3:g.25198A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000574094.6:c.988A>T	ENSP00000507301.1:p.Lys330Ter
ENST00000622290.5:c.988A>T	ENSP00000483331.2:p.Lys330Ter
ENST00000205557.12:c.988A>T MANE Select	ENSP00000205557.7:p.Lys330Ter
ENST00000205557.11:c.988A>T	ENSP00000205557.7:p.Lys330Ter
ENST00000456970.6:c.988A>T	ENSP00000405002.2:p.Lys330Ter
ENST00000574094.5:n.1084A>T
ENST00000577103.1:c.*855A>T	ENSP00000459243.1:n.*855A>T
ENST00000622290.4:c.988A>T	ENSP00000483331.1:p.Lys330Ter
NM_001171.5:c.988A>T	NP_001162.4:p.Lys330Ter
XM_011522479.1:c.988A>T	XP_011520781.1:p.Lys330Ter
XM_011522480.1:c.646A>T	XP_011520782.1:p.Lys216Ter
XM_011522481.1:c.646A>T	XP_011520783.1:p.Lys216Ter
XM_011522482.1:c.988A>T	XP_011520784.1:p.Lys330Ter
XR_932836.1:n.1223A>T
XR_932837.1:n.1224A>T
XR_932838.1:n.1224A>T
NM_001351800.1:c.646A>T	NP_001338729.1:p.Lys216Ter
NR_147784.1:n.1025A>T
XM_011522479.2:c.988A>T	XP_011520781.1:p.Lys330Ter
XM_011522481.3:c.646A>T	XP_011520783.1:p.Lys216Ter
XM_011522482.3:c.988A>T	XP_011520784.1:p.Lys330Ter
XM_017023212.1:c.988A>T	XP_016878701.1:p.Lys330Ter
XM_017023214.1:c.988A>T	XP_016878703.1:p.Lys330Ter
XM_024450261.1:c.1024A>T	XP_024306029.1:p.Lys342Ter
XR_932836.2:n.1169A>T
XR_932837.3:n.1169A>T
XR_932838.3:n.1169A>T
NM_001171.6:c.988A>T MANE Select	NP_001162.5:p.Lys330Ter