Canonical Allele Identifier: CA394880353

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16256863G>C (hg19) ; chr16:g.16163006G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163006G>C , CM000678.2:g.16163006G>C	GRCh38
NC_000016.9:g.16256863G>C , CM000678.1:g.16256863G>C	GRCh37
NC_000016.8:g.16164364G>C	NCBI36
NG_007558.2:g.65466C>G
NG_007558.3:g.65612C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3493C>G	ENSP00000483331.2:p.Leu1165Val
ENST00000205557.12:c.3493C>G MANE Select	ENSP00000205557.7:p.Leu1165Val
ENST00000640696.1:c.321-1442C>G	ENSP00000492197.1:n.321-1442C>G
ENST00000205557.11:c.3493C>G	ENSP00000205557.7:p.Leu1165Val
ENST00000456970.6:c.3132-1442C>G	ENSP00000405002.2:n.3132-1442C>G
ENST00000622290.4:c.*702C>G	ENSP00000483331.1:n.*702C>G
NM_001171.5:c.3493C>G	NP_001162.4:p.Leu1165Val
XM_011522479.1:c.3460C>G	XP_011520781.1:p.Leu1154Val
XM_011522480.1:c.3151C>G	XP_011520782.1:p.Leu1051Val
XM_011522481.1:c.3151C>G	XP_011520783.1:p.Leu1051Val
XR_932836.1:n.3728C>G
XR_932837.1:n.3543-1442C>G
XR_932838.1:n.3543-1442C>G
XR_933133.1:n.407+163G>C
XR_933134.1:n.754+163G>C
NM_001351800.1:c.3151C>G	NP_001338729.1:p.Leu1051Val
NR_147784.1:n.3169-1442C>G
XM_011522479.2:c.3460C>G	XP_011520781.1:p.Leu1154Val
XM_011522481.3:c.3151C>G	XP_011520783.1:p.Leu1051Val
XM_017023212.1:c.3325C>G	XP_016878701.1:p.Leu1109Val
XM_017023214.1:c.3307-1442C>G	XP_016878703.1:n.3307-1442C>G
XM_024450261.1:c.3529C>G	XP_024306029.1:p.Leu1177Val
XR_932836.2:n.3674C>G
XR_932837.3:n.3488-1442C>G
XR_932838.3:n.3488-1442C>G
NM_001171.6:c.3493C>G MANE Select	NP_001162.5:p.Leu1165Val