Canonical Allele Identifier: CA400190474

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48262946G>T (hg19) ; chr17:g.50185585G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185585G>T , CM000679.2:g.50185585G>T	GRCh38
NC_000017.10:g.48262946G>T , CM000679.1:g.48262946G>T	GRCh37
NC_000017.9:g.45617945G>T	NCBI36
NG_007400.1:g.21055C>A , LRG_1:g.21055C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4312C>A MANE Select	ENSP00000225964.6:p.Pro1438Thr
ENST00000225964.9:c.4312C>A	ENSP00000225964.5:p.Pro1438Thr
NM_000088.3:c.4312C>A , LRG_1t1:c.4312C>A	NP_000079.2:p.Pro1438Thr
XM_005257058.3:c.4042C>A	XP_005257115.2:p.Pro1348Thr
XM_005257059.3:c.3394C>A	XP_005257116.2:p.Pro1132Thr
XM_011524341.1:c.4114C>A	XP_011522643.1:p.Pro1372Thr
XM_005257058.4:c.4042C>A	XP_005257115.2:p.Pro1348Thr
XM_005257059.4:c.3394C>A	XP_005257116.2:p.Pro1132Thr
NM_000088.4:c.4312C>A MANE Select	NP_000079.2:p.Pro1438Thr