Canonical Allele Identifier: CA493797991

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253345G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159488G>T , CM000678.2:g.16159488G>T	GRCh38
NC_000016.9:g.16253345G>T , CM000678.1:g.16253345G>T	GRCh37
NC_000016.8:g.16160846G>T	NCBI36
NG_007558.2:g.68984C>A
NG_007558.3:g.69130C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3729C>A	ENSP00000483331.2:p.Pro1243=
ENST00000205557.12:c.3729C>A MANE Select	ENSP00000205557.7:p.Pro1243=
ENST00000640696.1:c.543C>A	ENSP00000492197.1:p.Pro181=
ENST00000205557.11:c.3729C>A	ENSP00000205557.7:p.Pro1243=
ENST00000456970.6:c.3354C>A	ENSP00000405002.2:n.3354C>A
ENST00000622290.4:c.*938C>A	ENSP00000483331.1:n.*938C>A
NM_001171.5:c.3729C>A	NP_001162.4:p.Pro1243=
XM_011522479.1:c.3696C>A	XP_011520781.1:p.Pro1232=
XM_011522480.1:c.3387C>A	XP_011520782.1:p.Pro1129=
XM_011522481.1:c.3387C>A	XP_011520783.1:p.Pro1129=
XR_932836.1:n.3964C>A
XR_932837.1:n.3765C>A
XR_932838.1:n.3765C>A
XR_933134.1:n.539-293G>T
NM_001351800.1:c.3387C>A	NP_001338729.1:p.Pro1129=
NR_147784.1:n.3391C>A
XM_011522479.2:c.3696C>A	XP_011520781.1:p.Pro1232=
XM_011522481.3:c.3387C>A	XP_011520783.1:p.Pro1129=
XM_017023212.1:c.3561C>A	XP_016878701.1:p.Pro1187=
XM_024450261.1:c.3765C>A	XP_024306029.1:p.Pro1255=
XR_932836.2:n.3910C>A
XR_932837.3:n.3710C>A
XR_932838.3:n.3710C>A
NM_001171.6:c.3729C>A MANE Select	NP_001162.5:p.Pro1243=