Canonical Allele Identifier: CA400191828

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263230T>G (hg19) ; chr17:g.50185869T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185869T>G , CM000679.2:g.50185869T>G	GRCh38
NC_000017.10:g.48263230T>G , CM000679.1:g.48263230T>G	GRCh37
NC_000017.9:g.45618229T>G	NCBI36
NG_007400.1:g.20771A>C , LRG_1:g.20771A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4157A>C MANE Select	ENSP00000225964.6:p.Lys1386Thr
ENST00000225964.9:c.4157A>C	ENSP00000225964.5:p.Lys1386Thr
ENST00000510710.3:n.1122A>C
NM_000088.3:c.4157A>C , LRG_1t1:c.4157A>C	NP_000079.2:p.Lys1386Thr
XM_005257058.3:c.3887A>C	XP_005257115.2:p.Lys1296Thr
XM_005257059.3:c.3239A>C	XP_005257116.2:p.Lys1080Thr
XM_011524341.1:c.3959A>C	XP_011522643.1:p.Lys1320Thr
XM_005257058.4:c.3887A>C	XP_005257115.2:p.Lys1296Thr
XM_005257059.4:c.3239A>C	XP_005257116.2:p.Lys1080Thr
NM_000088.4:c.4157A>C MANE Select	NP_000079.2:p.Lys1386Thr