Canonical Allele Identifier: CA394883737

Gene: ABCC6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*538A>C	ENSP00000483331.2:n.*538A>C
ENST00000205557.12:c.4366A>C MANE Select	ENSP00000205557.7:p.Ile1456Leu
ENST00000640696.1:c.1180A>C	ENSP00000492197.1:p.Ile394Leu
ENST00000205557.11:c.4366A>C	ENSP00000205557.7:p.Ile1456Leu
ENST00000456970.6:c.3991A>C	ENSP00000405002.2:n.3991A>C
ENST00000576204.5:n.1229A>C
ENST00000622290.4:c.*1575A>C	ENSP00000483331.1:n.*1575A>C
NM_001171.5:c.4366A>C	NP_001162.4:p.Ile1456Leu
XM_011522479.1:c.4333A>C	XP_011520781.1:p.Ile1445Leu
XM_011522480.1:c.4024A>C	XP_011520782.1:p.Ile1342Leu
XM_011522481.1:c.4024A>C	XP_011520783.1:p.Ile1342Leu
XR_933134.1:n.538+6325T>G
NM_001351800.1:c.4024A>C	NP_001338729.1:p.Ile1342Leu
NR_147784.1:n.4028A>C
XM_011522479.2:c.4333A>C	XP_011520781.1:p.Ile1445Leu
XM_011522481.3:c.4024A>C	XP_011520783.1:p.Ile1342Leu
XM_017023212.1:c.4198A>C	XP_016878701.1:p.Ile1400Leu
XM_024450261.1:c.4402A>C	XP_024306029.1:p.Ile1468Leu
NM_001171.6:c.4366A>C MANE Select	NP_001162.5:p.Ile1456Leu