Canonical Allele Identifier: CA394884828

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16263631C>G (hg19) ; chr16:g.16169774C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169774C>G , CM000678.2:g.16169774C>G	GRCh38
NC_000016.9:g.16263631C>G , CM000678.1:g.16263631C>G	GRCh37
NC_000016.8:g.16171132C>G	NCBI36
NG_007558.2:g.58698G>C
NG_007558.3:g.58844G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2867G>C	ENSP00000483331.2:p.Cys956Ser
ENST00000205557.12:c.2867G>C MANE Select	ENSP00000205557.7:p.Cys956Ser
ENST00000205557.11:c.2867G>C	ENSP00000205557.7:p.Cys956Ser
ENST00000456970.6:c.2692G>C	ENSP00000405002.2:n.2692G>C
ENST00000622290.4:c.*76G>C	ENSP00000483331.1:n.*76G>C
NM_001171.5:c.2867G>C	NP_001162.4:p.Cys956Ser
XM_011522479.1:c.2834G>C	XP_011520781.1:p.Cys945Ser
XM_011522480.1:c.2525G>C	XP_011520782.1:p.Cys842Ser
XM_011522481.1:c.2525G>C	XP_011520783.1:p.Cys842Ser
XR_932836.1:n.3102G>C
XR_932837.1:n.3103G>C
XR_932838.1:n.3103G>C
NM_001351800.1:c.2525G>C	NP_001338729.1:p.Cys842Ser
NR_147784.1:n.2729G>C
XM_011522479.2:c.2834G>C	XP_011520781.1:p.Cys945Ser
XM_011522481.3:c.2525G>C	XP_011520783.1:p.Cys842Ser
XM_017023212.1:c.2699G>C	XP_016878701.1:p.Cys900Ser
XM_017023214.1:c.2867G>C	XP_016878703.1:p.Cys956Ser
XM_024450261.1:c.2903G>C	XP_024306029.1:p.Cys968Ser
XR_932836.2:n.3048G>C
XR_932837.3:n.3048G>C
XR_932838.3:n.3048G>C
NM_001171.6:c.2867G>C MANE Select	NP_001162.5:p.Cys956Ser