Canonical Allele Identifier: CA400222514

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48273998C>T (hg19) ; chr17:g.50196637C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196637C>T , CM000679.2:g.50196637C>T	GRCh38
NC_000017.10:g.48273998C>T , CM000679.1:g.48273998C>T	GRCh37
NC_000017.9:g.45628997C>T	NCBI36
NG_007400.1:g.10003G>A , LRG_1:g.10003G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.838G>A MANE Select	ENSP00000225964.6:p.Ala280Thr
ENST00000225964.9:c.838G>A	ENSP00000225964.5:p.Ala280Thr
ENST00000495677.1:n.565G>A
NM_000088.3:c.838G>A , LRG_1t1:c.838G>A	NP_000079.2:p.Ala280Thr
XM_005257058.3:c.838G>A	XP_005257115.2:p.Ala280Thr
XM_005257059.3:c.838G>A	XP_005257116.2:p.Ala280Thr
XM_011524341.1:c.838G>A	XP_011522643.1:p.Ala280Thr
XM_005257058.4:c.838G>A	XP_005257115.2:p.Ala280Thr
XM_005257059.4:c.838G>A	XP_005257116.2:p.Ala280Thr
NM_000088.4:c.838G>A MANE Select	NP_000079.2:p.Ala280Thr