Canonical Allele Identifier: CA394887511

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16271314T>C (hg19) ; chr16:g.16177457T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16177457T>C , CM000678.2:g.16177457T>C	GRCh38
NC_000016.9:g.16271314T>C , CM000678.1:g.16271314T>C	GRCh37
NC_000016.8:g.16178815T>C	NCBI36
NG_007558.2:g.51015A>G
NG_007558.3:g.51161A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.2585A>G	ENSP00000483331.2:p.Glu862Gly
ENST00000205557.12:c.2585A>G MANE Select	ENSP00000205557.7:p.Glu862Gly
ENST00000205557.11:c.2585A>G	ENSP00000205557.7:p.Glu862Gly
ENST00000456970.6:c.2415+1341A>G	ENSP00000405002.2:n.2415+1341A>G
ENST00000576683.1:n.65A>G
ENST00000622290.4:c.2415+1341A>G	ENSP00000483331.1:n.2415+1341A>G
NM_001171.5:c.2585A>G	NP_001162.4:p.Glu862Gly
XM_011522479.1:c.2552A>G	XP_011520781.1:p.Glu851Gly
XM_011522480.1:c.2243A>G	XP_011520782.1:p.Glu748Gly
XM_011522481.1:c.2243A>G	XP_011520783.1:p.Glu748Gly
XM_011522482.1:c.2585A>G	XP_011520784.1:p.Glu862Gly
XR_932836.1:n.2820A>G
XR_932837.1:n.2821A>G
XR_932838.1:n.2821A>G
NM_001351800.1:c.2243A>G	NP_001338729.1:p.Glu748Gly
NR_147784.1:n.2452+1341A>G
XM_011522479.2:c.2552A>G	XP_011520781.1:p.Glu851Gly
XM_011522481.3:c.2243A>G	XP_011520783.1:p.Glu748Gly
XM_011522482.3:c.2585A>G	XP_011520784.1:p.Glu862Gly
XM_017023212.1:c.2417A>G	XP_016878701.1:p.Glu806Gly
XM_017023214.1:c.2585A>G	XP_016878703.1:p.Glu862Gly
XM_024450261.1:c.2621A>G	XP_024306029.1:p.Glu874Gly
XR_932836.2:n.2766A>G
XR_932837.3:n.2766A>G
XR_932838.3:n.2766A>G
NM_001171.6:c.2585A>G MANE Select	NP_001162.5:p.Glu862Gly