Canonical Allele Identifier: CA394891597

Gene: ABCC6

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16212193C>G , CM000678.2:g.16212193C>G	GRCh38
NC_000016.9:g.16306050C>G , CM000678.1:g.16306050C>G	GRCh37
NC_000016.8:g.16213551C>G	NCBI36
NG_007558.2:g.16279G>C
NG_007558.3:g.16425G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.654G>C	ENSP00000507301.1:p.Trp218Cys
ENST00000622290.5:c.654G>C	ENSP00000483331.2:p.Trp218Cys
ENST00000205557.12:c.654G>C MANE Select	ENSP00000205557.7:p.Trp218Cys
ENST00000205557.11:c.654G>C	ENSP00000205557.7:p.Trp218Cys
ENST00000456970.6:c.654G>C	ENSP00000405002.2:p.Trp218Cys
ENST00000574094.5:n.750G>C
ENST00000577103.1:c.*521G>C	ENSP00000459243.1:n.*521G>C
ENST00000622290.4:c.654G>C	ENSP00000483331.1:p.Trp218Cys
NM_001171.5:c.654G>C	NP_001162.4:p.Trp218Cys
XM_011522479.1:c.654G>C	XP_011520781.1:p.Trp218Cys
XM_011522480.1:c.312G>C	XP_011520782.1:p.Trp104Cys
XM_011522481.1:c.312G>C	XP_011520783.1:p.Trp104Cys
XM_011522482.1:c.654G>C	XP_011520784.1:p.Trp218Cys
XR_932836.1:n.889G>C
XR_932837.1:n.890G>C
XR_932838.1:n.890G>C
XR_933131.1:n.381+102C>G
XR_933132.1:n.381+102C>G
NM_001351800.1:c.312G>C	NP_001338729.1:p.Trp104Cys
NR_147784.1:n.691G>C
XM_011522479.2:c.654G>C	XP_011520781.1:p.Trp218Cys
XM_011522481.3:c.312G>C	XP_011520783.1:p.Trp104Cys
XM_011522482.3:c.654G>C	XP_011520784.1:p.Trp218Cys
XM_017023212.1:c.654G>C	XP_016878701.1:p.Trp218Cys
XM_017023214.1:c.654G>C	XP_016878703.1:p.Trp218Cys
XM_024450261.1:c.690G>C	XP_024306029.1:p.Trp230Cys
XR_001752340.1:n.389+102C>G
XR_001752341.1:n.389+102C>G
XR_001752342.1:n.389+102C>G
XR_932836.2:n.835G>C
XR_932837.3:n.835G>C
XR_932838.3:n.835G>C
XR_933131.2:n.389+102C>G
XR_933132.2:n.389+102C>G
NM_001171.6:c.654G>C MANE Select	NP_001162.5:p.Trp218Cys