Canonical Allele Identifier: CA3893622

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75152186C>G , CM000668.2:g.75152186C>G	GRCh38
NC_000006.11:g.75861902C>G , CM000668.1:g.75861902C>G	GRCh37
NC_000006.10:g.75918622C>G	NCBI36
NG_042181.1:g.58722G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.3780G>C MANE Select	NP_004361.3:p.Lys1260Asn
ENST00000322507.13:c.3780G>C MANE Select	ENSP00000325146.8:p.Lys1260Asn
NM_004370.5:c.3780G>C	NP_004361.3:p.Lys1260Asn
NM_080645.2:c.288G>C	NP_542376.2:p.Lys96Asn
NM_080645.3:c.288G>C	NP_542376.2:p.Lys96Asn
ENST00000322507.12:c.3780G>C	ENSP00000325146.8:p.Lys1260Asn
ENST00000345356.10:c.288G>C	ENSP00000305147.9:p.Lys96Asn
ENST00000416123.6:c.3780G>C	ENSP00000412864.2:p.Lys1260Asn
ENST00000419671.1:c.4G>C
ENST00000483888.6:c.3780G>C	ENSP00000421216.1:p.Lys1260Asn
ENST00000615798.4:c.213G>C	ENSP00000483232.1:p.Lys71Asn
XM_011535434.1:c.3780G>C	XP_011533736.1:p.Lys1260Asn
XM_011535435.1:c.3507G>C	XP_011533737.1:p.Lys1169Asn
XM_011535436.1:c.288G>C	XP_011533738.1:p.Lys96Asn
XM_011535436.2:c.288G>C	XP_011533738.1:p.Lys96Asn
XM_017010252.2:c.3744G>C	XP_016865741.1:p.Lys1248Asn