Canonical Allele Identifier: CA400191734

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263206T>G (hg19) ; chr17:g.50185845T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185845T>G , CM000679.2:g.50185845T>G	GRCh38
NC_000017.10:g.48263206T>G , CM000679.1:g.48263206T>G	GRCh37
NC_000017.9:g.45618205T>G	NCBI36
NG_007400.1:g.20795A>C , LRG_1:g.20795A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4181A>C MANE Select	ENSP00000225964.6:p.Asn1394Thr
ENST00000225964.9:c.4181A>C	ENSP00000225964.5:p.Asn1394Thr
ENST00000510710.3:n.1146A>C
NM_000088.3:c.4181A>C , LRG_1t1:c.4181A>C	NP_000079.2:p.Asn1394Thr
XM_005257058.3:c.3911A>C	XP_005257115.2:p.Asn1304Thr
XM_005257059.3:c.3263A>C	XP_005257116.2:p.Asn1088Thr
XM_011524341.1:c.3983A>C	XP_011522643.1:p.Asn1328Thr
XM_005257058.4:c.3911A>C	XP_005257115.2:p.Asn1304Thr
XM_005257059.4:c.3263A>C	XP_005257116.2:p.Asn1088Thr
NM_000088.4:c.4181A>C MANE Select	NP_000079.2:p.Asn1394Thr