Canonical Allele Identifier: CA394883734

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244471A>C (hg19) ; chr16:g.16150614A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150614A>C , CM000678.2:g.16150614A>C	GRCh38
NC_000016.9:g.16244471A>C , CM000678.1:g.16244471A>C	GRCh37
NC_000016.8:g.16151972A>C	NCBI36
NG_007558.2:g.77858T>G
NG_007558.3:g.78004T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*539T>G	ENSP00000483331.2:n.*539T>G
ENST00000205557.12:c.4367T>G MANE Select	ENSP00000205557.7:p.Ile1456Ser
ENST00000640696.1:c.1181T>G	ENSP00000492197.1:p.Ile394Ser
ENST00000205557.11:c.4367T>G	ENSP00000205557.7:p.Ile1456Ser
ENST00000456970.6:c.3992T>G	ENSP00000405002.2:n.3992T>G
ENST00000576204.5:n.1230T>G
ENST00000622290.4:c.*1576T>G	ENSP00000483331.1:n.*1576T>G
NM_001171.5:c.4367T>G	NP_001162.4:p.Ile1456Ser
XM_011522479.1:c.4334T>G	XP_011520781.1:p.Ile1445Ser
XM_011522480.1:c.4025T>G	XP_011520782.1:p.Ile1342Ser
XM_011522481.1:c.4025T>G	XP_011520783.1:p.Ile1342Ser
XR_933134.1:n.538+6324A>C
NM_001351800.1:c.4025T>G	NP_001338729.1:p.Ile1342Ser
NR_147784.1:n.4029T>G
XM_011522479.2:c.4334T>G	XP_011520781.1:p.Ile1445Ser
XM_011522481.3:c.4025T>G	XP_011520783.1:p.Ile1342Ser
XM_017023212.1:c.4199T>G	XP_016878701.1:p.Ile1400Ser
XM_024450261.1:c.4403T>G	XP_024306029.1:p.Ile1468Ser
NM_001171.6:c.4367T>G MANE Select	NP_001162.5:p.Ile1456Ser