Canonical Allele Identifier: CA394884918

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16263656G>T (hg19) ; chr16:g.16169799G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169799G>T , CM000678.2:g.16169799G>T	GRCh38
NC_000016.9:g.16263656G>T , CM000678.1:g.16263656G>T	GRCh37
NC_000016.8:g.16171157G>T	NCBI36
NG_007558.2:g.58673C>A
NG_007558.3:g.58819C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2842C>A	ENSP00000483331.2:p.Leu948Ile
ENST00000205557.12:c.2842C>A MANE Select	ENSP00000205557.7:p.Leu948Ile
ENST00000205557.11:c.2842C>A	ENSP00000205557.7:p.Leu948Ile
ENST00000456970.6:c.2667C>A	ENSP00000405002.2:n.2667C>A
ENST00000622290.4:c.*51C>A	ENSP00000483331.1:n.*51C>A
NM_001171.5:c.2842C>A	NP_001162.4:p.Leu948Ile
XM_011522479.1:c.2809C>A	XP_011520781.1:p.Leu937Ile
XM_011522480.1:c.2500C>A	XP_011520782.1:p.Leu834Ile
XM_011522481.1:c.2500C>A	XP_011520783.1:p.Leu834Ile
XR_932836.1:n.3077C>A
XR_932837.1:n.3078C>A
XR_932838.1:n.3078C>A
NM_001351800.1:c.2500C>A	NP_001338729.1:p.Leu834Ile
NR_147784.1:n.2704C>A
XM_011522479.2:c.2809C>A	XP_011520781.1:p.Leu937Ile
XM_011522481.3:c.2500C>A	XP_011520783.1:p.Leu834Ile
XM_017023212.1:c.2674C>A	XP_016878701.1:p.Leu892Ile
XM_017023214.1:c.2842C>A	XP_016878703.1:p.Leu948Ile
XM_024450261.1:c.2878C>A	XP_024306029.1:p.Leu960Ile
XR_932836.2:n.3023C>A
XR_932837.3:n.3023C>A
XR_932838.3:n.3023C>A
NM_001171.6:c.2842C>A MANE Select	NP_001162.5:p.Leu948Ile