Canonical Allele Identifier: CA394884907

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16263652T>A (hg19) ; chr16:g.16169795T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169795T>A , CM000678.2:g.16169795T>A	GRCh38
NC_000016.9:g.16263652T>A , CM000678.1:g.16263652T>A	GRCh37
NC_000016.8:g.16171153T>A	NCBI36
NG_007558.2:g.58677A>T
NG_007558.3:g.58823A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2846A>T	ENSP00000483331.2:p.Tyr949Phe
ENST00000205557.12:c.2846A>T MANE Select	ENSP00000205557.7:p.Tyr949Phe
ENST00000205557.11:c.2846A>T	ENSP00000205557.7:p.Tyr949Phe
ENST00000456970.6:c.2671A>T	ENSP00000405002.2:n.2671A>T
ENST00000622290.4:c.*55A>T	ENSP00000483331.1:n.*55A>T
NM_001171.5:c.2846A>T	NP_001162.4:p.Tyr949Phe
XM_011522479.1:c.2813A>T	XP_011520781.1:p.Tyr938Phe
XM_011522480.1:c.2504A>T	XP_011520782.1:p.Tyr835Phe
XM_011522481.1:c.2504A>T	XP_011520783.1:p.Tyr835Phe
XR_932836.1:n.3081A>T
XR_932837.1:n.3082A>T
XR_932838.1:n.3082A>T
NM_001351800.1:c.2504A>T	NP_001338729.1:p.Tyr835Phe
NR_147784.1:n.2708A>T
XM_011522479.2:c.2813A>T	XP_011520781.1:p.Tyr938Phe
XM_011522481.3:c.2504A>T	XP_011520783.1:p.Tyr835Phe
XM_017023212.1:c.2678A>T	XP_016878701.1:p.Tyr893Phe
XM_017023214.1:c.2846A>T	XP_016878703.1:p.Tyr949Phe
XM_024450261.1:c.2882A>T	XP_024306029.1:p.Tyr961Phe
XR_932836.2:n.3027A>T
XR_932837.3:n.3027A>T
XR_932838.3:n.3027A>T
NM_001171.6:c.2846A>T MANE Select	NP_001162.5:p.Tyr949Phe