Canonical Allele Identifier: CA400190650

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48262976C>A (hg19) ; chr17:g.50185615C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185615C>A , CM000679.2:g.50185615C>A	GRCh38
NC_000017.10:g.48262976C>A , CM000679.1:g.48262976C>A	GRCh37
NC_000017.9:g.45617975C>A	NCBI36
NG_007400.1:g.21025G>T , LRG_1:g.21025G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4282G>T MANE Select	ENSP00000225964.6:p.Glu1428Ter
ENST00000225964.9:c.4282G>T	ENSP00000225964.5:p.Glu1428Ter
NM_000088.3:c.4282G>T , LRG_1t1:c.4282G>T	NP_000079.2:p.Glu1428Ter
XM_005257058.3:c.4012G>T	XP_005257115.2:p.Glu1338Ter
XM_005257059.3:c.3364G>T	XP_005257116.2:p.Glu1122Ter
XM_011524341.1:c.4084G>T	XP_011522643.1:p.Glu1362Ter
XM_005257058.4:c.4012G>T	XP_005257115.2:p.Glu1338Ter
XM_005257059.4:c.3364G>T	XP_005257116.2:p.Glu1122Ter
NM_000088.4:c.4282G>T MANE Select	NP_000079.2:p.Glu1428Ter