Canonical Allele Identifier: CA394884505

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16263577T>G (hg19) ; chr16:g.16169720T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169720T>G , CM000678.2:g.16169720T>G	GRCh38
NC_000016.9:g.16263577T>G , CM000678.1:g.16263577T>G	GRCh37
NC_000016.8:g.16171078T>G	NCBI36
NG_007558.2:g.58752A>C
NG_007558.3:g.58898A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2921A>C	ENSP00000483331.2:p.Asp974Ala
ENST00000205557.12:c.2921A>C MANE Select	ENSP00000205557.7:p.Asp974Ala
ENST00000205557.11:c.2921A>C	ENSP00000205557.7:p.Asp974Ala
ENST00000456970.6:c.2746A>C	ENSP00000405002.2:n.2746A>C
ENST00000622290.4:c.*130A>C	ENSP00000483331.1:n.*130A>C
NM_001171.5:c.2921A>C	NP_001162.4:p.Asp974Ala
XM_011522479.1:c.2888A>C	XP_011520781.1:p.Asp963Ala
XM_011522480.1:c.2579A>C	XP_011520782.1:p.Asp860Ala
XM_011522481.1:c.2579A>C	XP_011520783.1:p.Asp860Ala
XR_932836.1:n.3156A>C
XR_932837.1:n.3157A>C
XR_932838.1:n.3157A>C
NM_001351800.1:c.2579A>C	NP_001338729.1:p.Asp860Ala
NR_147784.1:n.2783A>C
XM_011522479.2:c.2888A>C	XP_011520781.1:p.Asp963Ala
XM_011522481.3:c.2579A>C	XP_011520783.1:p.Asp860Ala
XM_017023212.1:c.2753A>C	XP_016878701.1:p.Asp918Ala
XM_017023214.1:c.2921A>C	XP_016878703.1:p.Asp974Ala
XM_024450261.1:c.2957A>C	XP_024306029.1:p.Asp986Ala
XR_932836.2:n.3102A>C
XR_932837.3:n.3102A>C
XR_932838.3:n.3102A>C
NM_001171.6:c.2921A>C MANE Select	NP_001162.5:p.Asp974Ala