Canonical Allele Identifier: CA394883739

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244472T>A (hg19) ; chr16:g.16150615T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150615T>A , CM000678.2:g.16150615T>A	GRCh38
NC_000016.9:g.16244472T>A , CM000678.1:g.16244472T>A	GRCh37
NC_000016.8:g.16151973T>A	NCBI36
NG_007558.2:g.77857A>T
NG_007558.3:g.78003A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*538A>T	ENSP00000483331.2:n.*538A>T
ENST00000205557.12:c.4366A>T MANE Select	ENSP00000205557.7:p.Ile1456Phe
ENST00000640696.1:c.1180A>T	ENSP00000492197.1:p.Ile394Phe
ENST00000205557.11:c.4366A>T	ENSP00000205557.7:p.Ile1456Phe
ENST00000456970.6:c.3991A>T	ENSP00000405002.2:n.3991A>T
ENST00000576204.5:n.1229A>T
ENST00000622290.4:c.*1575A>T	ENSP00000483331.1:n.*1575A>T
NM_001171.5:c.4366A>T	NP_001162.4:p.Ile1456Phe
XM_011522479.1:c.4333A>T	XP_011520781.1:p.Ile1445Phe
XM_011522480.1:c.4024A>T	XP_011520782.1:p.Ile1342Phe
XM_011522481.1:c.4024A>T	XP_011520783.1:p.Ile1342Phe
XR_933134.1:n.538+6325T>A
NM_001351800.1:c.4024A>T	NP_001338729.1:p.Ile1342Phe
NR_147784.1:n.4028A>T
XM_011522479.2:c.4333A>T	XP_011520781.1:p.Ile1445Phe
XM_011522481.3:c.4024A>T	XP_011520783.1:p.Ile1342Phe
XM_017023212.1:c.4198A>T	XP_016878701.1:p.Ile1400Phe
XM_024450261.1:c.4402A>T	XP_024306029.1:p.Ile1468Phe
NM_001171.6:c.4366A>T MANE Select	NP_001162.5:p.Ile1456Phe