Canonical Allele Identifier: CA400190155

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48262910G>A (hg19) ; chr17:g.50185549G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185549G>A , CM000679.2:g.50185549G>A	GRCh38
NC_000017.10:g.48262910G>A , CM000679.1:g.48262910G>A	GRCh37
NC_000017.9:g.45617909G>A	NCBI36
NG_007400.1:g.21091C>T , LRG_1:g.21091C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4348C>T MANE Select	ENSP00000225964.6:p.Pro1450Ser
ENST00000225964.9:c.4348C>T	ENSP00000225964.5:p.Pro1450Ser
NM_000088.3:c.4348C>T , LRG_1t1:c.4348C>T	NP_000079.2:p.Pro1450Ser
XM_005257058.3:c.4078C>T	XP_005257115.2:p.Pro1360Ser
XM_005257059.3:c.3430C>T	XP_005257116.2:p.Pro1144Ser
XM_011524341.1:c.4150C>T	XP_011522643.1:p.Pro1384Ser
XM_005257058.4:c.4078C>T	XP_005257115.2:p.Pro1360Ser
XM_005257059.4:c.3430C>T	XP_005257116.2:p.Pro1144Ser
NM_000088.4:c.4348C>T MANE Select	NP_000079.2:p.Pro1450Ser